Name: rs1049434
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1049434

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:112913924 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.337961 (89455/264690, TOPMED)
A=0.408341 (102684/251466, GnomAD_exome)
A=0.338967 (47450/139984, GnomAD) (+ 25 more)
A=0.402791 (48894/121388, ExAC)
A=0.410760 (47092/114646, ALFA)
A=0.28895 (22732/78672, PAGE_STUDY)
A=0.34000 (9607/28256, 14KJPN)
A=0.33944 (5689/16760, 8.3KJPN)
A=0.33377 (4341/13006, GO-ESP)
A=0.3201 (2050/6404, 1000G_30x)
A=0.3233 (1619/5008, 1000G)
A=0.4143 (1856/4480, Estonian)
A=0.4320 (1665/3854, ALSPAC)
A=0.4347 (1612/3708, TWINSUK)
A=0.3457 (1013/2930, KOREAN)
A=0.3352 (614/1832, Korea1K)
A=0.3218 (419/1302, HapMap)
A=0.451 (450/998, GoNL)
A=0.350 (268/766, PRJEB37584)
A=0.331 (203/614, Vietnamese)
A=0.425 (255/600, NorthernSweden)
A=0.401 (214/534, MGP)
A=0.254 (122/480, SGDP_PRJ)
A=0.346 (124/358, PharmGKB)
A=0.461 (140/304, FINRISK)
A=0.301 (65/216, Qatari)
A=0.33 (13/40, GENOME_DK)
A=0.25 (10/40, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SLC16A1 : Missense Variant
Publications: 26 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	114646	A=0.410760	T=0.589240	0.172828	0.351308	0.475865	9
European	Sub	96906	A=0.42692	T=0.57308	0.182177	0.328339	0.489485	0
African	Sub	4372	A=0.1594	T=0.8406	0.031107	0.71226	0.256633	3
African Others	Sub	174	A=0.086	T=0.914	0.011494	0.83908	0.149425	0
African American	Sub	4198	A=0.1625	T=0.8375	0.03192	0.707003	0.261077	2
Asian	Sub	3312	A=0.3237	T=0.6763	0.112319	0.464976	0.422705	1
East Asian	Sub	2658	A=0.3465	T=0.6535	0.127916	0.434913	0.437171	1
Other Asian	Sub	654	A=0.231	T=0.769	0.04893	0.587156	0.363914	0
Latin American 1	Sub	790	A=0.323	T=0.677	0.124051	0.478481	0.397468	2
Latin American 2	Sub	946	A=0.467	T=0.533	0.219873	0.285412	0.494715	0
South Asian	Sub	274	A=0.460	T=0.540	0.175182	0.255474	0.569343	2
Other	Sub	8046	A=0.3889	T=0.6111	0.161322	0.383545	0.455133	4

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.337961	T=0.662039
gnomAD - Exomes	Global	Study-wide	251466	A=0.408341	T=0.591659
gnomAD - Exomes	European	Sub	135400	A=0.426603	T=0.573397
gnomAD - Exomes	Asian	Sub	49006	A=0.40640	T=0.59360
gnomAD - Exomes	American	Sub	34588	A=0.47835	T=0.52165
gnomAD - Exomes	African	Sub	16254	A=0.13750	T=0.86250
gnomAD - Exomes	Ashkenazi Jewish	Sub	10078	A=0.36922	T=0.63078
gnomAD - Exomes	Other	Sub	6140	A=0.4080	T=0.5920
gnomAD - Genomes	Global	Study-wide	139984	A=0.338967	T=0.661033
gnomAD - Genomes	European	Sub	75794	A=0.42688	T=0.57312
gnomAD - Genomes	African	Sub	41976	A=0.14587	T=0.85413
gnomAD - Genomes	American	Sub	13632	A=0.43567	T=0.56433
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.3639	T=0.6361
gnomAD - Genomes	East Asian	Sub	3110	A=0.3376	T=0.6624
gnomAD - Genomes	Other	Sub	2152	A=0.3601	T=0.6399
ExAC	Global	Study-wide	121388	A=0.402791	T=0.597209
ExAC	Europe	Sub	73344	A=0.42352	T=0.57648
ExAC	Asian	Sub	25154	A=0.41492	T=0.58508
ExAC	American	Sub	11576	A=0.48143	T=0.51857
ExAC	African	Sub	10406	A=0.13963	T=0.86037
ExAC	Other	Sub	908	A=0.405	T=0.595
Allele Frequency Aggregator	Total	Global	114646	A=0.410760	T=0.589240
Allele Frequency Aggregator	European	Sub	96906	A=0.42692	T=0.57308
Allele Frequency Aggregator	Other	Sub	8046	A=0.3889	T=0.6111
Allele Frequency Aggregator	African	Sub	4372	A=0.1594	T=0.8406
Allele Frequency Aggregator	Asian	Sub	3312	A=0.3237	T=0.6763
Allele Frequency Aggregator	Latin American 2	Sub	946	A=0.467	T=0.533
Allele Frequency Aggregator	Latin American 1	Sub	790	A=0.323	T=0.677
Allele Frequency Aggregator	South Asian	Sub	274	A=0.460	T=0.540
The PAGE Study	Global	Study-wide	78672	A=0.28895	T=0.71105
The PAGE Study	AfricanAmerican	Sub	32508	A=0.15442	T=0.84558
The PAGE Study	Mexican	Sub	10804	A=0.45335	T=0.54665
The PAGE Study	Asian	Sub	8312	A=0.3311	T=0.6689
The PAGE Study	PuertoRican	Sub	7916	A=0.3791	T=0.6209
The PAGE Study	NativeHawaiian	Sub	4534	A=0.3286	T=0.6714
The PAGE Study	Cuban	Sub	4226	A=0.3762	T=0.6238
The PAGE Study	Dominican	Sub	3826	A=0.2823	T=0.7177
The PAGE Study	CentralAmerican	Sub	2450	A=0.4686	T=0.5314
The PAGE Study	SouthAmerican	Sub	1982	A=0.4344	T=0.5656
The PAGE Study	NativeAmerican	Sub	1260	A=0.4143	T=0.5857
The PAGE Study	SouthAsian	Sub	854	A=0.433	T=0.567
14KJPN	JAPANESE	Study-wide	28256	A=0.34000	T=0.66000
8.3KJPN	JAPANESE	Study-wide	16760	A=0.33944	T=0.66056
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.33377	T=0.66623
GO Exome Sequencing Project	European American	Sub	8600	A=0.4251	T=0.5749
GO Exome Sequencing Project	African American	Sub	4406	A=0.1555	T=0.8445
1000Genomes_30x	Global	Study-wide	6404	A=0.3201	T=0.6799
1000Genomes_30x	African	Sub	1786	A=0.0857	T=0.9143
1000Genomes_30x	Europe	Sub	1266	A=0.4368	T=0.5632
1000Genomes_30x	South Asian	Sub	1202	A=0.4285	T=0.5715
1000Genomes_30x	East Asian	Sub	1170	A=0.3402	T=0.6598
1000Genomes_30x	American	Sub	980	A=0.440	T=0.560
1000Genomes	Global	Study-wide	5008	A=0.3233	T=0.6767
1000Genomes	African	Sub	1322	A=0.0915	T=0.9085
1000Genomes	East Asian	Sub	1008	A=0.3353	T=0.6647
1000Genomes	Europe	Sub	1006	A=0.4374	T=0.5626
1000Genomes	South Asian	Sub	978	A=0.418	T=0.582
1000Genomes	American	Sub	694	A=0.448	T=0.552
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4143	T=0.5857
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4320	T=0.5680
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4347	T=0.5653
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3457	G=0.0000, T=0.6543
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3352	T=0.6648
HapMap	Global	Study-wide	1302	A=0.3218	T=0.6782
HapMap	American	Sub	656	A=0.360	T=0.640
HapMap	Asian	Sub	252	A=0.345	T=0.655
HapMap	African	Sub	224	A=0.080	T=0.920
HapMap	Europe	Sub	170	A=0.459	T=0.541
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.451	T=0.549
CNV burdens in cranial meningiomas	Global	Study-wide	766	A=0.350	T=0.650
CNV burdens in cranial meningiomas	CRM	Sub	766	A=0.350	T=0.650
A Vietnamese Genetic Variation Database	Global	Study-wide	614	A=0.331	T=0.669
Northern Sweden	ACPOP	Study-wide	600	A=0.425	T=0.575
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.401	T=0.599
SGDP_PRJ	Global	Study-wide	480	A=0.254	T=0.746
PharmGKB Aggregated	Global	Study-wide	358	A=0.346	T=0.654
PharmGKB Aggregated	PA149952742	Sub	358	A=0.346	T=0.654
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.461	T=0.539
Qatari	Global	Study-wide	216	A=0.301	T=0.699
The Danish reference pan genome	Danish	Study-wide	40	A=0.33	T=0.68
Siberian	Global	Study-wide	40	A=0.25	T=0.75

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.112913924A>G
GRCh38.p14 chr 1	NC_000001.11:g.112913924A>T
GRCh37.p13 chr 1	NC_000001.10:g.113456546A>G
GRCh37.p13 chr 1	NC_000001.10:g.113456546A>T
SLC16A1 RefSeqGene	NG_015880.2:g.47005T>C
SLC16A1 RefSeqGene	NG_015880.2:g.47005T>A
GRCh38.p14 chr 1 fix patch HG2104_PATCH	NW_009646196.1:g.4503A>G
GRCh38.p14 chr 1 fix patch HG2104_PATCH	NW_009646196.1:g.4503A>T

Gene: SLC16A1, solute carrier family 16 member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC16A1 transcript variant 1	NM_003051.4:c.1470T>C	D [GAT] > D [GAC]	Coding Sequence Variant
monocarboxylate transporter 1	NP_003042.3:p.Asp490=	D (Asp) > D (Asp)	Synonymous Variant
SLC16A1 transcript variant 1	NM_003051.4:c.1470T>A	D [GAT] > E [GAA]	Coding Sequence Variant
monocarboxylate transporter 1	NP_003042.3:p.Asp490Glu	D (Asp) > E (Glu)	Missense Variant
SLC16A1 transcript variant 2	NM_001166496.2:c.1470T>C	D [GAT] > D [GAC]	Coding Sequence Variant
monocarboxylate transporter 1	NP_001159968.1:p.Asp490=	D (Asp) > D (Asp)	Synonymous Variant
SLC16A1 transcript variant 2	NM_001166496.2:c.1470T>A	D [GAT] > E [GAA]	Coding Sequence Variant
monocarboxylate transporter 1	NP_001159968.1:p.Asp490Glu	D (Asp) > E (Glu)	Missense Variant
SLC16A1 transcript variant X1	XM_047428789.1:c.1470T>C	D [GAT] > D [GAC]	Coding Sequence Variant
monocarboxylate transporter 1 isoform X1	XP_047284745.1:p.Asp490=	D (Asp) > D (Asp)	Synonymous Variant
SLC16A1 transcript variant X1	XM_047428789.1:c.1470T>A	D [GAT] > E [GAA]	Coding Sequence Variant
monocarboxylate transporter 1 isoform X1	XP_047284745.1:p.Asp490Glu	D (Asp) > E (Glu)	Missense Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 135762 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000118353.9	not specified	Benign
RCV000399121.5	Exercise-induced hyperinsulinism	Benign
RCV001650964.6	not provided	Benign
RCV001807076.3	Metabolic myopathy due to lactate transporter defect	Benign
RCV001807077.3	Ketoacidosis due to monocarboxylate transporter-1 deficiency	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.112913924=	NC_000001.11:g.112913924A>G	NC_000001.11:g.112913924A>T
GRCh37.p13 chr 1	NC_000001.10:g.113456546=	NC_000001.10:g.113456546A>G	NC_000001.10:g.113456546A>T
SLC16A1 RefSeqGene	NG_015880.2:g.47005=	NG_015880.2:g.47005T>C	NG_015880.2:g.47005T>A
SLC16A1 transcript variant 1	NM_003051.4:c.1470=	NM_003051.4:c.1470T>C	NM_003051.4:c.1470T>A
SLC16A1 transcript variant 1	NM_003051.3:c.1470=	NM_003051.3:c.1470T>C	NM_003051.3:c.1470T>A
SLC16A1 transcript variant 2	NM_001166496.2:c.1470=	NM_001166496.2:c.1470T>C	NM_001166496.2:c.1470T>A
SLC16A1 transcript variant 2	NM_001166496.1:c.1470=	NM_001166496.1:c.1470T>C	NM_001166496.1:c.1470T>A
GRCh38.p14 chr 1 fix patch HG2104_PATCH	NW_009646196.1:g.4503=	NW_009646196.1:g.4503A>G	NW_009646196.1:g.4503A>T
SLC16A1 transcript variant X1	XM_047428789.1:c.1470=	XM_047428789.1:c.1470T>C	XM_047428789.1:c.1470T>A
monocarboxylate transporter 1	NP_003042.3:p.Asp490=	NP_003042.3:p.Asp490=	NP_003042.3:p.Asp490Glu
monocarboxylate transporter 1	NP_001159968.1:p.Asp490=	NP_001159968.1:p.Asp490=	NP_001159968.1:p.Asp490Glu
monocarboxylate transporter 1 isoform X1	XP_047284745.1:p.Asp490=	XP_047284745.1:p.Asp490=	XP_047284745.1:p.Asp490Glu

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

184 SubSNP, 28 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1523184	Oct 05, 2000 (86)
2	HGBASE	ss2424659	Nov 14, 2000 (89)
3	LEE	ss4414369	May 29, 2002 (106)
4	YUSUKE	ss4975961	Aug 28, 2002 (108)
5	BCM_SSAHASNP	ss9818215	Jul 11, 2003 (116)
6	WI_SSAHASNP	ss11350490	Jul 11, 2003 (116)
7	SC_SNP	ss13022040	Dec 05, 2003 (119)
8	SC_SNP	ss15420649	Feb 27, 2004 (120)
9	CGAP-GAI	ss16253390	Feb 27, 2004 (120)
10	SSAHASNP	ss20523364	Apr 05, 2004 (121)
11	PERLEGEN	ss23849258	Sep 20, 2004 (123)
12	ABI	ss44016606	Mar 14, 2006 (126)
13	ILLUMINA	ss65724692	Oct 16, 2006 (127)
14	AFFY	ss66395628	Dec 01, 2006 (127)
15	PERLEGEN	ss68778179	May 18, 2007 (127)
16	AFFY	ss76140320	Dec 08, 2007 (130)
17	SI_EXO	ss76898550	Dec 06, 2007 (129)
18	HGSV	ss77180729	Dec 06, 2007 (129)
19	HGSV	ss78591981	Dec 06, 2007 (129)
20	KRIBB_YJKIM	ss81452896	Dec 15, 2007 (130)
21	HGSV	ss81467801	Dec 16, 2007 (130)
22	PHARMGKB_AB_DME	ss84166595	Dec 16, 2007 (130)
23	HGSV	ss84380148	Dec 16, 2007 (130)
24	HGSV	ss84443874	Dec 16, 2007 (130)
25	CORNELL	ss86241160	Mar 23, 2008 (129)
26	BCMHGSC_JDW	ss87724340	Mar 23, 2008 (129)
27	HUMANGENOME_JCVI	ss99241723	Feb 06, 2009 (130)
28	SNP500CANCER	ss105439908	Feb 06, 2009 (130)
29	BGI	ss106595783	Feb 06, 2009 (130)
30	1000GENOMES	ss108534115	Jan 23, 2009 (130)
31	1000GENOMES	ss111032415	Jan 25, 2009 (130)
32	ILLUMINA-UK	ss118979800	Feb 15, 2009 (130)
33	ENSEMBL	ss138062617	Dec 01, 2009 (131)
34	ENSEMBL	ss139273546	Dec 01, 2009 (131)
35	ILLUMINA	ss152752267	Dec 01, 2009 (131)
36	GMI	ss155545910	Dec 01, 2009 (131)
37	ILLUMINA	ss159128767	Dec 01, 2009 (131)
38	SEATTLESEQ	ss159698358	Dec 01, 2009 (131)
39	ILLUMINA	ss159901549	Dec 01, 2009 (131)
40	COMPLETE_GENOMICS	ss163925859	Jul 04, 2010 (132)
41	COMPLETE_GENOMICS	ss165049955	Jul 04, 2010 (132)
42	COMPLETE_GENOMICS	ss167013366	Jul 04, 2010 (132)
43	ILLUMINA	ss170198773	Jul 04, 2010 (132)
44	AFFY	ss172619911	Jul 04, 2010 (132)
45	BUSHMAN	ss198950218	Jul 04, 2010 (132)
46	BCM-HGSC-SUB	ss205334760	Jul 04, 2010 (132)
47	1000GENOMES	ss218604085	Jul 14, 2010 (132)
48	1000GENOMES	ss230696835	Jul 14, 2010 (132)
49	1000GENOMES	ss238353680	Jul 15, 2010 (132)
50	ILLUMINA	ss244269267	Jul 04, 2010 (132)
51	BL	ss253393006	May 09, 2011 (134)
52	GMI	ss275982852	May 04, 2012 (137)
53	GMI	ss284123381	Apr 25, 2013 (138)
54	PJP	ss290601351	May 09, 2011 (134)
55	NHLBI-ESP	ss341982526	May 09, 2011 (134)
56	ILLUMINA	ss410887349	Sep 17, 2011 (135)
57	ILLUMINA	ss479289889	May 04, 2012 (137)
58	ILLUMINA	ss479292976	May 04, 2012 (137)
59	ILLUMINA	ss479672147	Sep 08, 2015 (146)
60	ILLUMINA	ss484445431	May 04, 2012 (137)
61	1000GENOMES	ss489758186	May 04, 2012 (137)
62	EXOME_CHIP	ss491298496	May 04, 2012 (137)
63	CLINSEQ_SNP	ss491600499	May 04, 2012 (137)
64	ILLUMINA	ss536613282	Sep 08, 2015 (146)
65	TISHKOFF	ss554590604	Apr 25, 2013 (138)
66	SSMP	ss648320826	Apr 25, 2013 (138)
67	ILLUMINA	ss778342363	Aug 21, 2014 (142)
68	ILLUMINA	ss780889664	Aug 21, 2014 (142)
69	ILLUMINA	ss782669224	Aug 21, 2014 (142)
70	ILLUMINA	ss783575943	Aug 21, 2014 (142)
71	ILLUMINA	ss783637962	Aug 21, 2014 (142)
72	ILLUMINA	ss831919860	Apr 01, 2015 (144)
73	ILLUMINA	ss832641458	Aug 21, 2014 (142)
74	ILLUMINA	ss833232147	Aug 21, 2014 (142)
75	ILLUMINA	ss833796976	Aug 21, 2014 (142)
76	JMKIDD_LAB	ss974436695	Aug 21, 2014 (142)
77	EVA-GONL	ss975583021	Aug 21, 2014 (142)
78	JMKIDD_LAB	ss1067424499	Aug 21, 2014 (142)
79	JMKIDD_LAB	ss1068202335	Aug 21, 2014 (142)
80	1000GENOMES	ss1292479921	Aug 21, 2014 (142)
81	DDI	ss1425941105	Apr 01, 2015 (144)
82	CLINVAR	ss1457615327	Nov 23, 2014 (142)
83	EVA_GENOME_DK	ss1574330774	Apr 01, 2015 (144)
84	EVA_FINRISK	ss1584010158	Apr 01, 2015 (144)
85	EVA_DECODE	ss1584963478	Apr 01, 2015 (144)
86	EVA_UK10K_ALSPAC	ss1601016003	Apr 01, 2015 (144)
87	EVA_UK10K_TWINSUK	ss1644010036	Apr 01, 2015 (144)
88	EVA_EXAC	ss1685694448	Apr 01, 2015 (144)
89	EVA_MGP	ss1710916535	Apr 01, 2015 (144)
90	EVA_SVP	ss1712364091	Apr 01, 2015 (144)
91	ILLUMINA	ss1751864299	Sep 08, 2015 (146)
92	HAMMER_LAB	ss1794951206	Sep 08, 2015 (146)
93	ILLUMINA	ss1917732789	Feb 12, 2016 (147)
94	WEILL_CORNELL_DGM	ss1918783397	Feb 12, 2016 (147)
95	ILLUMINA	ss1946005414	Feb 12, 2016 (147)
96	ILLUMINA	ss1958304296	Feb 12, 2016 (147)
97	GENOMED	ss1966844410	Jul 19, 2016 (147)
98	ACHAKRAVARTILAB	ss1998364261	Jul 19, 2016 (147)
99	JJLAB	ss2019916067	Sep 14, 2016 (149)
100	USC_VALOUEV	ss2147934701	Dec 20, 2016 (150)
101	HUMAN_LONGEVITY	ss2165809720	Dec 20, 2016 (150)
102	SYSTEMSBIOZJU	ss2624467715	Nov 08, 2017 (151)
103	ILLUMINA	ss2632564861	Nov 08, 2017 (151)
104	GRF	ss2697864869	Nov 08, 2017 (151)
105	ILLUMINA	ss2710680167	Nov 08, 2017 (151)
106	GNOMAD	ss2731724633	Nov 08, 2017 (151)
107	GNOMAD	ss2746398000	Nov 08, 2017 (151)
108	GNOMAD	ss2759691723	Nov 08, 2017 (151)
109	AFFY	ss2984871349	Nov 08, 2017 (151)
110	AFFY	ss2985522474	Nov 08, 2017 (151)
111	SWEGEN	ss2987457749	Nov 08, 2017 (151)
112	ILLUMINA	ss3021122285	Nov 08, 2017 (151)
113	EVA_SAMSUNG_MC	ss3023056929	Nov 08, 2017 (151)
114	BIOINF_KMB_FNS_UNIBA	ss3023722514	Nov 08, 2017 (151)
115	CSHL	ss3343640711	Nov 08, 2017 (151)
116	ILLUMINA	ss3626185811	Oct 11, 2018 (152)
117	ILLUMINA	ss3626185812	Oct 11, 2018 (152)
118	ILLUMINA	ss3630598455	Oct 11, 2018 (152)
119	ILLUMINA	ss3632906620	Oct 11, 2018 (152)
120	ILLUMINA	ss3633601776	Oct 11, 2018 (152)
121	ILLUMINA	ss3634343848	Oct 11, 2018 (152)
122	ILLUMINA	ss3636021663	Oct 11, 2018 (152)
123	ILLUMINA	ss3637780827	Oct 11, 2018 (152)
124	ILLUMINA	ss3640051207	Oct 11, 2018 (152)
125	ILLUMINA	ss3644501381	Oct 11, 2018 (152)
126	OMUKHERJEE_ADBS	ss3646235037	Oct 11, 2018 (152)
127	URBANLAB	ss3646755110	Oct 11, 2018 (152)
128	ILLUMINA	ss3651454340	Oct 11, 2018 (152)
129	ILLUMINA	ss3653643399	Oct 11, 2018 (152)
130	EGCUT_WGS	ss3655546619	Jul 12, 2019 (153)
131	EVA_DECODE	ss3687554243	Jul 12, 2019 (153)
132	ILLUMINA	ss3725055810	Jul 12, 2019 (153)
133	ACPOP	ss3727398946	Jul 12, 2019 (153)
134	ILLUMINA	ss3744349895	Jul 12, 2019 (153)
135	ILLUMINA	ss3744644797	Jul 12, 2019 (153)
136	EVA	ss3746687197	Jul 12, 2019 (153)
137	PAGE_CC	ss3770833902	Jul 12, 2019 (153)
138	ILLUMINA	ss3772145993	Jul 12, 2019 (153)
139	PACBIO	ss3783523047	Jul 12, 2019 (153)
140	PACBIO	ss3789164393	Jul 12, 2019 (153)
141	PACBIO	ss3794037321	Jul 12, 2019 (153)
142	KHV_HUMAN_GENOMES	ss3799689954	Jul 12, 2019 (153)
143	EVA	ss3823642868	Apr 25, 2020 (154)
144	EVA	ss3825518275	Apr 25, 2020 (154)
145	EVA	ss3825535337	Apr 25, 2020 (154)
146	EVA	ss3825572169	Apr 25, 2020 (154)
147	EVA	ss3826376297	Apr 25, 2020 (154)
148	EVA	ss3836579842	Apr 25, 2020 (154)
149	EVA	ss3841988266	Apr 25, 2020 (154)
150	SGDP_PRJ	ss3849674483	Apr 25, 2020 (154)
151	KRGDB	ss3894770406	Apr 25, 2020 (154)
152	KOGIC	ss3945271012	Apr 25, 2020 (154)
153	FSA-LAB	ss3983941063	Apr 25, 2021 (155)
154	FSA-LAB	ss3983941064	Apr 25, 2021 (155)
155	EVA	ss3984463181	Apr 25, 2021 (155)
156	EVA	ss3986011867	Apr 25, 2021 (155)
157	EVA	ss3986131859	Apr 25, 2021 (155)
158	EVA	ss4016932641	Apr 25, 2021 (155)
159	TOPMED	ss4464014781	Apr 25, 2021 (155)
160	TOMMO_GENOMICS	ss5145732821	Apr 25, 2021 (155)
161	EVA	ss5236871891	Apr 25, 2021 (155)
162	EVA	ss5237632622	Oct 12, 2022 (156)
163	1000G_HIGH_COVERAGE	ss5243650091	Oct 12, 2022 (156)
164	TRAN_CS_UWATERLOO	ss5314396661	Oct 12, 2022 (156)
165	EVA	ss5314644844	Oct 12, 2022 (156)
166	EVA	ss5321259977	Oct 12, 2022 (156)
167	HUGCELL_USP	ss5444569599	Oct 12, 2022 (156)
168	EVA	ss5506001076	Oct 12, 2022 (156)
169	1000G_HIGH_COVERAGE	ss5516664479	Oct 12, 2022 (156)
170	EVA	ss5623915704	Oct 12, 2022 (156)
171	EVA	ss5623995772	Oct 12, 2022 (156)
172	SANFORD_IMAGENETICS	ss5626322244	Oct 12, 2022 (156)
173	TOMMO_GENOMICS	ss5671016474	Oct 12, 2022 (156)
174	EVA	ss5799496296	Oct 12, 2022 (156)
175	EVA	ss5800046703	Oct 12, 2022 (156)
176	EVA	ss5800084078	Oct 12, 2022 (156)
177	YY_MCH	ss5800941960	Oct 12, 2022 (156)
178	EVA	ss5832499978	Oct 12, 2022 (156)
179	EVA	ss5847551699	Oct 12, 2022 (156)
180	EVA	ss5848268337	Oct 12, 2022 (156)
181	EVA	ss5849072729	Oct 12, 2022 (156)
182	EVA	ss5936511170	Oct 12, 2022 (156)
183	EVA	ss5938189569	Oct 12, 2022 (156)
184	EVA	ss5979979081	Oct 12, 2022 (156)
185	1000Genomes	NC_000001.10 - 113456546	Oct 11, 2018 (152)
186	1000Genomes_30x	NC_000001.11 - 112913924	Oct 12, 2022 (156)
187	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 113456546	Oct 11, 2018 (152)
188	Genetic variation in the Estonian population	NC_000001.10 - 113456546	Oct 11, 2018 (152)
189	ExAC	NC_000001.10 - 113456546	Oct 11, 2018 (152)
190	FINRISK	NC_000001.10 - 113456546	Apr 25, 2020 (154)
191	The Danish reference pan genome	NC_000001.10 - 113456546	Apr 25, 2020 (154)
192	gnomAD - Genomes	NC_000001.11 - 112913924	Apr 25, 2021 (155)
193	gnomAD - Exomes	NC_000001.10 - 113456546	Jul 12, 2019 (153)
194	GO Exome Sequencing Project	NC_000001.10 - 113456546	Oct 11, 2018 (152)
195	Genome of the Netherlands Release 5	NC_000001.10 - 113456546	Apr 25, 2020 (154)
196	HapMap	NC_000001.11 - 112913924	Apr 25, 2020 (154)
197	KOREAN population from KRGDB	NC_000001.10 - 113456546	Apr 25, 2020 (154)
198	Korean Genome Project	NC_000001.11 - 112913924	Apr 25, 2020 (154)
199	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 113456546	Apr 25, 2020 (154)
200	Northern Sweden	NC_000001.10 - 113456546	Jul 12, 2019 (153)
201	The PAGE Study	NC_000001.11 - 112913924	Jul 12, 2019 (153)
202	CNV burdens in cranial meningiomas	NC_000001.10 - 113456546	Apr 25, 2021 (155)
203	PharmGKB Aggregated	NC_000001.11 - 112913924	Apr 25, 2020 (154)
204	Qatari	NC_000001.10 - 113456546	Apr 25, 2020 (154)
205	SGDP_PRJ	NC_000001.10 - 113456546	Apr 25, 2020 (154)
206	Siberian	NC_000001.10 - 113456546	Apr 25, 2020 (154)
207	8.3KJPN	NC_000001.10 - 113456546	Apr 25, 2021 (155)
208	14KJPN	NC_000001.11 - 112913924	Oct 12, 2022 (156)
209	TopMed	NC_000001.11 - 112913924	Apr 25, 2021 (155)
210	UK 10K study - Twins	NC_000001.10 - 113456546	Oct 11, 2018 (152)
211	A Vietnamese Genetic Variation Database	NC_000001.10 - 113456546	Jul 12, 2019 (153)
212	ALFA	NC_000001.11 - 112913924	Apr 25, 2021 (155)
213	ClinVar	RCV000118353.9	Oct 12, 2022 (156)
214	ClinVar	RCV000399121.5	Oct 12, 2022 (156)
215	ClinVar	RCV001650964.6	Oct 12, 2022 (156)
216	ClinVar	RCV001807076.3	Oct 12, 2022 (156)
217	ClinVar	RCV001807077.3	Oct 12, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs3189603	Jul 03, 2002 (106)
rs3789591	Oct 09, 2002 (108)
rs56625125	May 26, 2008 (130)
rs60325966	Feb 27, 2009 (130)
rs61493174	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1947800, ss3894770406	NC_000001.10:113456545:A:G	NC_000001.11:112913923:A:G	(self)
ss77180729, ss78591981, ss81467801, ss84380148, ss84443874	NC_000001.8:113168587:A:T	NC_000001.11:112913923:A:T	(self)
ss66395628, ss76140320, ss87724340, ss108534115, ss111032415, ss118979800, ss159901549, ss163925859, ss165049955, ss167013366, ss172619911, ss198950218, ss205334760, ss244269267, ss253393006, ss275982852, ss284123381, ss290601351, ss410887349, ss479289889, ss491600499, ss1584963478, ss1712364091	NC_000001.9:113258068:A:T	NC_000001.11:112913923:A:T	(self)
3257404, 1802337, 1284867, 4903988, 6619, 1669805, 748433, 101500, 784071, 1947800, 33287, 683811, 12493, 825327, 1691463, 451055, 3702128, 1802337, 390374, ss218604085, ss230696835, ss238353680, ss341982526, ss479292976, ss479672147, ss484445431, ss489758186, ss491298496, ss536613282, ss554590604, ss648320826, ss778342363, ss780889664, ss782669224, ss783575943, ss783637962, ss831919860, ss832641458, ss833232147, ss833796976, ss974436695, ss975583021, ss1067424499, ss1068202335, ss1292479921, ss1425941105, ss1574330774, ss1584010158, ss1601016003, ss1644010036, ss1685694448, ss1710916535, ss1751864299, ss1794951206, ss1917732789, ss1918783397, ss1946005414, ss1958304296, ss1966844410, ss1998364261, ss2019916067, ss2147934701, ss2624467715, ss2632564861, ss2697864869, ss2710680167, ss2731724633, ss2746398000, ss2759691723, ss2984871349, ss2985522474, ss2987457749, ss3021122285, ss3023056929, ss3343640711, ss3626185811, ss3626185812, ss3630598455, ss3632906620, ss3633601776, ss3634343848, ss3636021663, ss3637780827, ss3640051207, ss3644501381, ss3646235037, ss3651454340, ss3653643399, ss3655546619, ss3727398946, ss3744349895, ss3744644797, ss3746687197, ss3772145993, ss3783523047, ss3789164393, ss3794037321, ss3823642868, ss3825518275, ss3825535337, ss3825572169, ss3826376297, ss3836579842, ss3849674483, ss3894770406, ss3983941063, ss3983941064, ss3984463181, ss3986011867, ss3986131859, ss4016932641, ss5145732821, ss5314644844, ss5321259977, ss5506001076, ss5623915704, ss5623995772, ss5626322244, ss5799496296, ss5800046703, ss5800084078, ss5832499978, ss5847551699, ss5848268337, ss5936511170, ss5938189569, ss5979979081	NC_000001.10:113456545:A:T	NC_000001.11:112913923:A:T	(self)
RCV000118353.9, RCV000399121.5, RCV001650964.6, RCV001807076.3, RCV001807077.3, 4190414, 23030556, 157436, 1649013, 55371, 394, 4853578, 27621116, 7279551714, ss1457615327, ss2165809720, ss3023722514, ss3646755110, ss3687554243, ss3725055810, ss3770833902, ss3799689954, ss3841988266, ss3945271012, ss4464014781, ss5236871891, ss5237632622, ss5243650091, ss5314396661, ss5444569599, ss5516664479, ss5671016474, ss5800941960, ss5849072729	NC_000001.11:112913923:A:T	NC_000001.11:112913923:A:T	(self)
ss9818215, ss11350490, ss13022040	NT_019273.15:3894802:A:T	NC_000001.11:112913923:A:T	(self)
ss15420649, ss20523364	NT_019273.16:4452493:A:T	NC_000001.11:112913923:A:T	(self)
ss76898550	NT_019273.18:9364230:A:T	NC_000001.11:112913923:A:T	(self)
ss1523184, ss2424659, ss4414369, ss4975961, ss16253390, ss23849258, ss44016606, ss65724692, ss68778179, ss81452896, ss84166595, ss86241160, ss99241723, ss105439908, ss106595783, ss138062617, ss139273546, ss152752267, ss155545910, ss159128767, ss159698358, ss170198773	NT_032977.9:83428463:A:T	NC_000001.11:112913923:A:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

26 citations for rs1049434

PMID	Title	Author	Year	Journal
18414213	ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.	Richards CS et al.	2008	Genetics in medicine
19850519	MCT1 genetic polymorphism influence in high intensity circuit training: a pilot study.	Cupeiro R et al.	2010	Journal of science and medicine in sport
22516692	Influence of the MCT1-T1470A polymorphism (rs1049434) on blood lactate accumulation during different circuit weight trainings in men and women.	Cupeiro R et al.	2012	Journal of science and medicine in sport
23940833	Playing with heart and soul…and genomes: sports implications and applications of personal genomics.	Wagner JK et al.	2013	PeerJ
24485392	MCT1 A1470T: a novel polymorphism for sprint performance?	Sawczuk M et al.	2015	Journal of science and medicine in sport
24708341	Differences in MCT1 A1470T polymorphism prevalence between runners and swimmers.	Ben-Zaken S et al.	2015	Scandinavian journal of medicine & science in sports
25188268	Is the COL5A1 rs12722 gene polymorphism associated with running economy?	Bertuzzi R et al.	2014	PloS one
25371203	Functional characterization of 5-oxoproline transport via SLC16A1/MCT1.	Sasaki S et al.	2015	The Journal of biological chemistry
25492048	Polymorphisms of monocarboxylate transporter genes are associated with clinical outcomes in patients with colorectal cancer.	Fei F et al.	2015	Journal of cancer research and clinical oncology
25578492	Genetic variations in monocarboxylate transporter genes as predictors of clinical outcomes in non-small cell lung cancer.	Guo X et al.	2015	Tumour biology
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
26478856	Influence of the MCT1 rs1049434 on Indirect Muscle Disorders/Injuries in Elite Football Players.	Massidda M et al.	2015	Sports medicine - open
27026015	Role of the monocarboxylate transporter MCT1 in the uptake of lactate during active recovery.	Cupeiro R et al.	2016	European journal of applied physiology
27798356	Lack of replication of associations between multiple genetic polymorphisms and endurance athlete status in Japanese population.	Yvert T et al.	2016	Physiological reports
29695106	BSG and MCT1 Genetic Variants Influence Survival in Multiple Myeloma Patients.	Łacina P et al.	2018	Genes
30177396	Genetic variations in the monocarboxylate transporter genes (SLC16A1, SLC16A3, and SLC16A11) in the Japanese population.	Kimura Y et al.	2018	Drug metabolism and pharmacokinetics
30290372	Association of Monocarboxylate Transporter-1 (MCT1) A1470T Polymorphism (rs1049434) with Forward Football Player Status.	Massidda M et al.	2018	International journal of sports medicine
33763108	Whole Genome Interpretation for a Family of Five.	Corpas M et al.	2021	Frontiers in genetics
34366884	Effects of Genetic Variation on Endurance Performance, Muscle Strength, and Injury Susceptibility in Sports: A Systematic Review.	Appel M et al.	2021	Frontiers in physiology
34475628	The MCT1 gene Glu490Asp polymorphism (rs1049434) is associated with endurance athlete status, lower blood lactate accumulation and higher maximum oxygen uptake.	Guilherme JPLF et al.	2021	Biology of sport
34480633	Influence of the MCT1-T1470A polymorphism (rs1049434) on repeated sprint ability and blood lactate accumulation in elite football players: a pilot study.	Massidda M et al.	2021	European journal of applied physiology
34678924	Putative Role of MCT1 rs1049434 Polymorphism in High-Intensity Endurance Performance: Concept and Basis to Understand Possible Individualization Stimulus.	Ramírez de la Piscina-Viúdez X et al.	2021	Sports (Basel, Switzerland)
35054026	BSG (CD147) Serum Level and Genetic Variants Are Associated with Overall Survival in Acute Myeloid Leukaemia.	Łacina P et al.	2022	Journal of clinical medicine
35627255	Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes.	Dzitkowska-Zabielska M et al.	2022	Genes
35741731	The Relationship between ACE, ACTN3 and MCT1 Genetic Polymorphisms and Athletic Performance in Elite Rugby Union Players: A Preliminary Study.	Pasqualetti M et al.	2022	Genes
35741757	Genetics and Sport Injuries: New Perspectives for Athletic Excellence in an Italian Court of Rugby Union Players.	Onori ME et al.	2022	Genes

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1049434