Name: rs12504443
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.

rs12504443

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:99252001 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.104428 (27641/264690, TOPMED)
T=0.093524 (13102/140092, GnomAD)
T=0.08322 (2568/30858, ALFA) (+ 14 more)
T=0.08086 (2285/28258, 14KJPN)
T=0.07745 (1298/16760, 8.3KJPN)
T=0.1124 (720/6404, 1000G_30x)
T=0.1074 (538/5008, 1000G)
T=0.0623 (279/4480, Estonian)
T=0.0833 (321/3854, ALSPAC)
T=0.0882 (327/3708, TWINSUK)
T=0.1202 (351/2920, KOREAN)
T=0.028 (28/998, GoNL)
T=0.112 (67/600, NorthernSweden)
T=0.093 (20/216, Qatari)
C=0.399 (67/168, SGDP_PRJ)
T=0.12 (5/40, GENOME_DK)
C=0.32 (7/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC100507053 : Intron Variant
Publications: 0 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	30858	C=0.91678	T=0.08322	0.842634	0.009074	0.148292	7
European	Sub	24730	C=0.92139	T=0.07861	0.849252	0.00647	0.144278	0
African	Sub	3168	C=0.9429	T=0.0571	0.888258	0.002525	0.109217	0
African Others	Sub	124	C=0.935	T=0.065	0.870968	0.0	0.129032	0
African American	Sub	3044	C=0.9432	T=0.0568	0.888962	0.002628	0.10841	0
Asian	Sub	128	C=0.953	T=0.047	0.90625	0.0	0.09375	0
East Asian	Sub	100	C=0.96	T=0.04	0.92	0.0	0.08	0
Other Asian	Sub	28	C=0.93	T=0.07	0.857143	0.0	0.142857	0
Latin American 1	Sub	168	C=0.887	T=0.113	0.785714	0.011905	0.202381	0
Latin American 2	Sub	700	C=0.686	T=0.314	0.491429	0.12	0.388571	2
South Asian	Sub	114	C=0.974	T=0.026	0.947368	0.0	0.052632	0
Other	Sub	1850	C=0.8946	T=0.1054	0.803243	0.014054	0.182703	1

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	C=0.895572	T=0.104428
gnomAD - Genomes	Global	Study-wide	140092	C=0.906476	T=0.093524
gnomAD - Genomes	European	Sub	75896	C=0.91274	T=0.08726
gnomAD - Genomes	African	Sub	41992	C=0.94104	T=0.05896
gnomAD - Genomes	American	Sub	13620	C=0.76601	T=0.23399
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.9159	T=0.0841
gnomAD - Genomes	East Asian	Sub	3116	C=0.8986	T=0.1014
gnomAD - Genomes	Other	Sub	2150	C=0.8972	T=0.1028
Allele Frequency Aggregator	Total	Global	30858	C=0.91678	T=0.08322
Allele Frequency Aggregator	European	Sub	24730	C=0.92139	T=0.07861
Allele Frequency Aggregator	African	Sub	3168	C=0.9429	T=0.0571
Allele Frequency Aggregator	Other	Sub	1850	C=0.8946	T=0.1054
Allele Frequency Aggregator	Latin American 2	Sub	700	C=0.686	T=0.314
Allele Frequency Aggregator	Latin American 1	Sub	168	C=0.887	T=0.113
Allele Frequency Aggregator	Asian	Sub	128	C=0.953	T=0.047
Allele Frequency Aggregator	South Asian	Sub	114	C=0.974	T=0.026
14KJPN	JAPANESE	Study-wide	28258	C=0.91914	T=0.08086
8.3KJPN	JAPANESE	Study-wide	16760	C=0.92255	T=0.07745
1000Genomes_30x	Global	Study-wide	6404	C=0.8876	T=0.1124
1000Genomes_30x	African	Sub	1786	C=0.9395	T=0.0605
1000Genomes_30x	Europe	Sub	1266	C=0.9068	T=0.0932
1000Genomes_30x	South Asian	Sub	1202	C=0.9626	T=0.0374
1000Genomes_30x	East Asian	Sub	1170	C=0.8932	T=0.1068
1000Genomes_30x	American	Sub	980	C=0.669	T=0.331
1000Genomes	Global	Study-wide	5008	C=0.8926	T=0.1074
1000Genomes	African	Sub	1322	C=0.9365	T=0.0635
1000Genomes	East Asian	Sub	1008	C=0.8998	T=0.1002
1000Genomes	Europe	Sub	1006	C=0.9076	T=0.0924
1000Genomes	South Asian	Sub	978	C=0.963	T=0.037
1000Genomes	American	Sub	694	C=0.677	T=0.323
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9377	T=0.0623
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9167	T=0.0833
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9118	T=0.0882
KOREAN population from KRGDB	KOREAN	Study-wide	2920	C=0.8798	T=0.1202
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.972	T=0.028
Northern Sweden	ACPOP	Study-wide	600	C=0.888	T=0.112
Qatari	Global	Study-wide	216	C=0.907	T=0.093
SGDP_PRJ	Global	Study-wide	168	C=0.399	T=0.601
The Danish reference pan genome	Danish	Study-wide	40	C=0.88	T=0.12
Siberian	Global	Study-wide	22	C=0.32	T=0.68

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 4	NC_000004.12:g.99252001C>T
GRCh37.p13 chr 4	NC_000004.11:g.100173158C>T

Gene: LOC100507053, uncharacterized LOC100507053 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100507053 transcript	NR_037884.1:n.	N/A	Intron 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.

Not Reported in ClinVar

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	C=	T
GRCh38.p14 chr 4	NC_000004.12:g.99252001=	NC_000004.12:g.99252001C>T
GRCh37.p13 chr 4	NC_000004.11:g.100173158=	NC_000004.11:g.100173158C>T

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#.

61 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss19576559	Feb 28, 2004 (120)
2	HGSV	ss80475135	Dec 15, 2007 (130)
3	1000GENOMES	ss108170935	Jan 23, 2009 (130)
4	ILLUMINA-UK	ss117113672	Feb 14, 2009 (130)
5	1000GENOMES	ss221098755	Jul 14, 2010 (132)
6	1000GENOMES	ss232515107	Jul 14, 2010 (132)
7	1000GENOMES	ss239780119	Jul 15, 2010 (132)
8	GMI	ss277844400	May 04, 2012 (137)
9	ILLUMINA	ss483722461	May 04, 2012 (137)
10	ILLUMINA	ss484659291	May 04, 2012 (137)
11	ILLUMINA	ss535923207	Sep 08, 2015 (146)
12	SSMP	ss651525716	Apr 25, 2013 (138)
13	ILLUMINA	ss780384149	Sep 08, 2015 (146)
14	ILLUMINA	ss782304754	Sep 08, 2015 (146)
15	ILLUMINA	ss835872590	Sep 08, 2015 (146)
16	EVA-GONL	ss980450166	Aug 21, 2014 (142)
17	JMKIDD_LAB	ss1071787156	Aug 21, 2014 (142)
18	1000GENOMES	ss1310980088	Aug 21, 2014 (142)
19	DDI	ss1429982725	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1580687448	Apr 01, 2015 (144)
21	EVA_DECODE	ss1589954192	Apr 01, 2015 (144)
22	EVA_UK10K_ALSPAC	ss1610736389	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1653730422	Apr 01, 2015 (144)
24	WEILL_CORNELL_DGM	ss1923690230	Feb 12, 2016 (147)
25	GENOMED	ss1969816832	Jul 19, 2016 (147)
26	JJLAB	ss2022431063	Sep 14, 2016 (149)
27	USC_VALOUEV	ss2150560240	Dec 20, 2016 (150)
28	HUMAN_LONGEVITY	ss2265425729	Dec 20, 2016 (150)
29	ILLUMINA	ss2634154520	Nov 08, 2017 (151)
30	GRF	ss2706037112	Nov 08, 2017 (151)
31	GNOMAD	ss2812855200	Nov 08, 2017 (151)
32	SWEGEN	ss2995210581	Nov 08, 2017 (151)
33	CSHL	ss3345861828	Nov 08, 2017 (151)
34	ILLUMINA	ss3629025512	Oct 12, 2018 (152)
35	ILLUMINA	ss3632088879	Oct 12, 2018 (152)
36	ILLUMINA	ss3642352186	Oct 12, 2018 (152)
37	EGCUT_WGS	ss3663106400	Jul 13, 2019 (153)
38	EVA_DECODE	ss3712656943	Jul 13, 2019 (153)
39	ACPOP	ss3731421843	Jul 13, 2019 (153)
40	EVA	ss3762167144	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3805315565	Jul 13, 2019 (153)
42	EVA	ss3828703565	Apr 26, 2020 (154)
43	EVA	ss3837792862	Apr 26, 2020 (154)
44	EVA	ss3843231255	Apr 26, 2020 (154)
45	SGDP_PRJ	ss3859610746	Apr 26, 2020 (154)
46	KRGDB	ss3905888274	Apr 26, 2020 (154)
47	TOPMED	ss4624642740	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5167078795	Apr 26, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5260288745	Oct 13, 2022 (156)
50	EVA	ss5314977536	Oct 13, 2022 (156)
51	EVA	ss5350976746	Oct 13, 2022 (156)
52	HUGCELL_USP	ss5458931153	Oct 13, 2022 (156)
53	EVA	ss5507641504	Oct 13, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5541956758	Oct 13, 2022 (156)
55	SANFORD_IMAGENETICS	ss5635665735	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5701810114	Oct 13, 2022 (156)
57	YY_MCH	ss5805354052	Oct 13, 2022 (156)
58	EVA	ss5844424299	Oct 13, 2022 (156)
59	EVA	ss5854356001	Oct 13, 2022 (156)
60	EVA	ss5864677349	Oct 13, 2022 (156)
61	EVA	ss5964056430	Oct 13, 2022 (156)
62	1000Genomes	NC_000004.11 - 100173158	Oct 12, 2018 (152)
63	1000Genomes_30x	NC_000004.12 - 99252001	Oct 13, 2022 (156)
64	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 100173158	Oct 12, 2018 (152)
65	Genetic variation in the Estonian population	NC_000004.11 - 100173158	Oct 12, 2018 (152)
66	The Danish reference pan genome	NC_000004.11 - 100173158	Apr 26, 2020 (154)
67	gnomAD - Genomes	NC_000004.12 - 99252001	Apr 26, 2021 (155)
68	Genome of the Netherlands Release 5	NC_000004.11 - 100173158	Apr 26, 2020 (154)
69	KOREAN population from KRGDB	NC_000004.11 - 100173158	Apr 26, 2020 (154)
70	Northern Sweden	NC_000004.11 - 100173158	Jul 13, 2019 (153)
71	Qatari	NC_000004.11 - 100173158	Apr 26, 2020 (154)
72	SGDP_PRJ	NC_000004.11 - 100173158	Apr 26, 2020 (154)
73	Siberian	NC_000004.11 - 100173158	Apr 26, 2020 (154)
74	8.3KJPN	NC_000004.11 - 100173158	Apr 26, 2021 (155)
75	14KJPN	NC_000004.12 - 99252001	Oct 13, 2022 (156)
76	TopMed	NC_000004.12 - 99252001	Apr 26, 2021 (155)
77	UK 10K study - Twins	NC_000004.11 - 100173158	Oct 12, 2018 (152)
78	ALFA	NC_000004.12 - 99252001	Apr 26, 2021 (155)

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)
rs59145046	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80475135	NC_000004.9:100530335:C:T	NC_000004.12:99252000:C:T	(self)
ss108170935, ss117113672, ss277844400, ss484659291, ss1589954192	NC_000004.10:100392180:C:T	NC_000004.12:99252000:C:T	(self)
22422293, 12472611, 8844648, 6852387, 5513648, 13065668, 4706708, 5732160, 11627726, 3076594, 25048102, 12472611, ss221098755, ss232515107, ss239780119, ss483722461, ss535923207, ss651525716, ss780384149, ss782304754, ss835872590, ss980450166, ss1071787156, ss1310980088, ss1429982725, ss1580687448, ss1610736389, ss1653730422, ss1923690230, ss1969816832, ss2022431063, ss2150560240, ss2634154520, ss2706037112, ss2812855200, ss2995210581, ss3345861828, ss3629025512, ss3632088879, ss3642352186, ss3663106400, ss3731421843, ss3762167144, ss3828703565, ss3837792862, ss3859610746, ss3905888274, ss5167078795, ss5314977536, ss5350976746, ss5507641504, ss5635665735, ss5844424299, ss5964056430	NC_000004.11:100173157:C:T	NC_000004.12:99252000:C:T	(self)
29482693, 158835724, 35647218, 462020296, 10692808754, ss2265425729, ss3712656943, ss3805315565, ss3843231255, ss4624642740, ss5260288745, ss5458931153, ss5541956758, ss5701810114, ss5805354052, ss5854356001, ss5864677349	NC_000004.12:99252000:C:T	NC_000004.12:99252000:C:T	(self)
ss19576559	NT_016354.16:24667861:C:T	NC_000004.12:99252000:C:T	(self)

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

No publications for rs12504443

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
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs12504443