Name: rs1049906
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.

rs1049906

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:110512732 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.422940 (111948/264690, TOPMED)
T=0.446049 (116616/261442, ALFA)
T=0.425277 (59583/140104, GnomAD) (+ 21 more)
T=0.43599 (34313/78702, PAGE_STUDY)
C=0.25016 (7069/28258, 14KJPN)
C=0.25173 (4219/16760, 8.3KJPN)
T=0.4980 (3189/6404, 1000G_30x)
C=0.4946 (2477/5008, 1000G)
T=0.4839 (2168/4480, Estonian)
T=0.4408 (1699/3854, ALSPAC)
T=0.4339 (1609/3708, TWINSUK)
C=0.2406 (705/2930, KOREAN)
T=0.4968 (940/1892, HapMap)
C=0.2473 (453/1832, Korea1K)
T=0.444 (443/998, GoNL)
C=0.235 (186/792, PRJEB37584)
T=0.487 (292/600, NorthernSweden)
C=0.326 (133/408, SGDP_PRJ)
T=0.301 (65/216, Qatari)
C=0.308 (66/214, Vietnamese)
C=0.35 (16/46, Siberian)
T=0.42 (17/40, GENOME_DK)
C=0.50 (18/36, Ancient Sardinia)
T=0.50 (18/36, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: COL4A2 : 3 Prime UTR Variant
Publications: 1 citation
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	270278	C=0.554511	T=0.445489	0.310769	0.201748	0.487483	13
European	Sub	236774	C=0.554085	T=0.445915	0.30853	0.20036	0.49111	3
African	Sub	11744	C=0.66570	T=0.33430	0.440225	0.108822	0.450954	1
African Others	Sub	434	C=0.687	T=0.313	0.479263	0.105991	0.414747	0
African American	Sub	11310	C=0.66490	T=0.33510	0.438727	0.10893	0.452343	1
Asian	Sub	3850	C=0.2681	T=0.7319	0.067532	0.531429	0.401039	1
East Asian	Sub	3120	C=0.2497	T=0.7503	0.058974	0.559615	0.38141	0
Other Asian	Sub	730	C=0.347	T=0.653	0.10411	0.410959	0.484932	1
Latin American 1	Sub	1042	C=0.6248	T=0.3752	0.401152	0.151631	0.447217	1
Latin American 2	Sub	6596	C=0.5465	T=0.4535	0.298969	0.205882	0.495149	0
South Asian	Sub	366	C=0.437	T=0.563	0.213115	0.338798	0.448087	1
Other	Sub	9906	C=0.5464	T=0.4536	0.307289	0.214416	0.478296	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	C=0.577060	T=0.422940
Allele Frequency Aggregator	Total	Global	261442	C=0.553951	T=0.446049
Allele Frequency Aggregator	European	Sub	230110	C=0.554009	T=0.445991
Allele Frequency Aggregator	African	Sub	10600	C=0.66566	T=0.33434
Allele Frequency Aggregator	Other	Sub	8878	C=0.5451	T=0.4549
Allele Frequency Aggregator	Latin American 2	Sub	6596	C=0.5465	T=0.4535
Allele Frequency Aggregator	Asian	Sub	3850	C=0.2681	T=0.7319
Allele Frequency Aggregator	Latin American 1	Sub	1042	C=0.6248	T=0.3752
Allele Frequency Aggregator	South Asian	Sub	366	C=0.437	T=0.563
gnomAD - Genomes	Global	Study-wide	140104	C=0.574723	T=0.425277
gnomAD - Genomes	European	Sub	75882	C=0.53896	T=0.46104
gnomAD - Genomes	African	Sub	41976	C=0.66567	T=0.33433
gnomAD - Genomes	American	Sub	13640	C=0.57434	T=0.42566
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.5689	T=0.4311
gnomAD - Genomes	East Asian	Sub	3130	C=0.2435	T=0.7565
gnomAD - Genomes	Other	Sub	2152	C=0.5553	T=0.4447
The PAGE Study	Global	Study-wide	78702	C=0.56401	T=0.43599
The PAGE Study	AfricanAmerican	Sub	32516	C=0.66343	T=0.33657
The PAGE Study	Mexican	Sub	10810	C=0.54561	T=0.45439
The PAGE Study	Asian	Sub	8318	C=0.2604	T=0.7396
The PAGE Study	PuertoRican	Sub	7918	C=0.5951	T=0.4049
The PAGE Study	NativeHawaiian	Sub	4534	C=0.3674	T=0.6326
The PAGE Study	Cuban	Sub	4230	C=0.5757	T=0.4243
The PAGE Study	Dominican	Sub	3828	C=0.6387	T=0.3613
The PAGE Study	CentralAmerican	Sub	2450	C=0.5482	T=0.4518
The PAGE Study	SouthAmerican	Sub	1982	C=0.5459	T=0.4541
The PAGE Study	NativeAmerican	Sub	1260	C=0.5532	T=0.4468
The PAGE Study	SouthAsian	Sub	856	C=0.436	T=0.564
14KJPN	JAPANESE	Study-wide	28258	C=0.25016	T=0.74984
8.3KJPN	JAPANESE	Study-wide	16760	C=0.25173	T=0.74827
1000Genomes_30x	Global	Study-wide	6404	C=0.5020	T=0.4980
1000Genomes_30x	African	Sub	1786	C=0.6590	T=0.3410
1000Genomes_30x	Europe	Sub	1266	C=0.5434	T=0.4566
1000Genomes_30x	South Asian	Sub	1202	C=0.4210	T=0.5790
1000Genomes_30x	East Asian	Sub	1170	C=0.2419	T=0.7581
1000Genomes_30x	American	Sub	980	C=0.572	T=0.428
1000Genomes	Global	Study-wide	5008	C=0.4946	T=0.5054
1000Genomes	African	Sub	1322	C=0.6528	T=0.3472
1000Genomes	East Asian	Sub	1008	C=0.2460	T=0.7540
1000Genomes	Europe	Sub	1006	C=0.5487	T=0.4513
1000Genomes	South Asian	Sub	978	C=0.424	T=0.576
1000Genomes	American	Sub	694	C=0.575	T=0.425
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5161	T=0.4839
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5592	T=0.4408
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5661	T=0.4339
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2406	A=0.0000, G=0.0000, T=0.7594
HapMap	Global	Study-wide	1892	C=0.5032	T=0.4968
HapMap	American	Sub	770	C=0.457	T=0.543
HapMap	African	Sub	692	C=0.655	T=0.345
HapMap	Asian	Sub	254	C=0.213	T=0.787
HapMap	Europe	Sub	176	C=0.528	T=0.472
Korean Genome Project	KOREAN	Study-wide	1832	C=0.2473	T=0.7527
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.556	T=0.444
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.235	T=0.765
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.235	T=0.765
Northern Sweden	ACPOP	Study-wide	600	C=0.513	T=0.487
SGDP_PRJ	Global	Study-wide	408	C=0.326	T=0.674
Qatari	Global	Study-wide	216	C=0.699	T=0.301
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.308	T=0.692
Siberian	Global	Study-wide	46	C=0.35	T=0.65
The Danish reference pan genome	Danish	Study-wide	40	C=0.57	T=0.42
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	36	C=0.50	T=0.50

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 13	NC_000013.11:g.110512732C>A
GRCh38.p14 chr 13	NC_000013.11:g.110512732C>G
GRCh38.p14 chr 13	NC_000013.11:g.110512732C>T
GRCh37.p13 chr 13	NC_000013.10:g.111165079C>A
GRCh37.p13 chr 13	NC_000013.10:g.111165079C>G
GRCh37.p13 chr 13	NC_000013.10:g.111165079C>T
COL4A2 RefSeqGene	NG_032137.1:g.210449C>A
COL4A2 RefSeqGene	NG_032137.1:g.210449C>G
COL4A2 RefSeqGene	NG_032137.1:g.210449C>T

Gene: COL4A2, collagen type IV alpha 2 chain (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COL4A2 transcript	NM_001846.4:c.*541=	N/A	3 Prime UTR 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: 333675 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000397445.3	Porencephaly 2	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	C=	A	G	T
GRCh38.p14 chr 13	NC_000013.11:g.110512732=	NC_000013.11:g.110512732C>A	NC_000013.11:g.110512732C>G	NC_000013.11:g.110512732C>T
GRCh37.p13 chr 13	NC_000013.10:g.111165079=	NC_000013.10:g.111165079C>A	NC_000013.10:g.111165079C>G	NC_000013.10:g.111165079C>T
COL4A2 RefSeqGene	NG_032137.1:g.210449=	NG_032137.1:g.210449C>A	NG_032137.1:g.210449C>G	NG_032137.1:g.210449C>T
COL4A2 transcript	NM_001846.4:c.*541=	NM_001846.4:c.*541C>A	NM_001846.4:c.*541C>G	NM_001846.4:c.*541C>T
COL4A2 transcript	NM_001846.3:c.*541=	NM_001846.3:c.*541C>A	NM_001846.3:c.*541C>G	NM_001846.3:c.*541C>T
COL4A2 transcript	NM_001846.2:c.*541=	NM_001846.2:c.*541C>A	NM_001846.2:c.*541C>G	NM_001846.2:c.*541C>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#.

131 SubSNP, 23 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1524011	Oct 05, 2000 (86)
2	YUSUKE	ss3210366	Sep 28, 2001 (100)
3	LEE	ss4414975	May 29, 2002 (106)
4	WI_SSAHASNP	ss6584997	Feb 20, 2003 (111)
5	SC_SNP	ss13176776	Dec 05, 2003 (119)
6	CSHL-HAPMAP	ss16602748	Feb 27, 2004 (120)
7	SSAHASNP	ss21037970	Apr 05, 2004 (121)
8	ABI	ss43525300	Mar 13, 2006 (126)
9	ILLUMINA	ss65736370	Oct 16, 2006 (127)
10	AFFY	ss65935685	Dec 01, 2006 (127)
11	PERLEGEN	ss69148715	May 17, 2007 (127)
12	ILLUMINA	ss74873906	Dec 06, 2007 (129)
13	HGSV	ss84657615	Dec 15, 2007 (130)
14	BGI	ss103163131	Dec 01, 2009 (131)
15	1000GENOMES	ss108119665	Jan 23, 2009 (130)
16	1000GENOMES	ss115321229	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss119018801	Feb 15, 2009 (130)
18	KRIBB_YJKIM	ss119380316	Dec 01, 2009 (131)
19	ILLUMINA	ss159903056	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss168690333	Jul 04, 2010 (132)
21	ILLUMINA	ss170228618	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss170805455	Jul 04, 2010 (132)
23	BUSHMAN	ss199732238	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss208642740	Jul 04, 2010 (132)
25	1000GENOMES	ss226425720	Jul 14, 2010 (132)
26	1000GENOMES	ss236435622	Jul 15, 2010 (132)
27	1000GENOMES	ss242891228	Jul 15, 2010 (132)
28	GMI	ss281889793	May 04, 2012 (137)
29	GMI	ss286790492	Apr 25, 2013 (138)
30	PJP	ss291538483	May 09, 2011 (134)
31	ILLUMINA	ss479294731	May 04, 2012 (137)
32	ILLUMINA	ss479297875	May 04, 2012 (137)
33	ILLUMINA	ss479678142	Sep 08, 2015 (146)
34	ILLUMINA	ss484447825	May 04, 2012 (137)
35	ILLUMINA	ss536615135	Sep 08, 2015 (146)
36	TISHKOFF	ss563928920	Apr 25, 2013 (138)
37	SSMP	ss659577050	Apr 25, 2013 (138)
38	ILLUMINA	ss778734345	Sep 08, 2015 (146)
39	ILLUMINA	ss782670430	Sep 08, 2015 (146)
40	ILLUMINA	ss783639152	Sep 08, 2015 (146)
41	ILLUMINA	ss831921082	Sep 08, 2015 (146)
42	ILLUMINA	ss834193869	Sep 08, 2015 (146)
43	EVA-GONL	ss990860013	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss1079444556	Aug 21, 2014 (142)
45	1000GENOMES	ss1349930609	Aug 21, 2014 (142)
46	DDI	ss1427331651	Apr 01, 2015 (144)
47	EVA_GENOME_DK	ss1577078184	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1631187731	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1674181764	Apr 01, 2015 (144)
50	EVA_DECODE	ss1694853589	Apr 01, 2015 (144)
51	EVA_SVP	ss1713424909	Apr 01, 2015 (144)
52	ILLUMINA	ss1752093707	Sep 08, 2015 (146)
53	HAMMER_LAB	ss1807800591	Sep 08, 2015 (146)
54	WEILL_CORNELL_DGM	ss1934222647	Feb 12, 2016 (147)
55	ILLUMINA	ss1946369335	Feb 12, 2016 (147)
56	ILLUMINA	ss1959530619	Feb 12, 2016 (147)
57	GENOMED	ss1967898856	Jul 19, 2016 (147)
58	JJLAB	ss2027887627	Sep 14, 2016 (149)
59	USC_VALOUEV	ss2156255066	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2199848924	Dec 20, 2016 (150)
61	SYSTEMSBIOZJU	ss2628432431	Nov 08, 2017 (151)
62	ILLUMINA	ss2633117173	Nov 08, 2017 (151)
63	ILLUMINA	ss2635049584	Nov 08, 2017 (151)
64	GRF	ss2700654740	Nov 08, 2017 (151)
65	ILLUMINA	ss2710793476	Nov 08, 2017 (151)
66	GNOMAD	ss2924511770	Nov 08, 2017 (151)
67	AFFY	ss2985011894	Nov 08, 2017 (151)
68	AFFY	ss2985647945	Nov 08, 2017 (151)
69	SWEGEN	ss3011723878	Nov 08, 2017 (151)
70	ILLUMINA	ss3021542424	Nov 08, 2017 (151)
71	BIOINF_KMB_FNS_UNIBA	ss3027767162	Nov 08, 2017 (151)
72	CSHL	ss3350668571	Nov 08, 2017 (151)
73	ILLUMINA	ss3625653134	Oct 12, 2018 (152)
74	ILLUMINA	ss3627158607	Oct 12, 2018 (152)
75	ILLUMINA	ss3631117587	Oct 12, 2018 (152)
76	ILLUMINA	ss3633066701	Oct 12, 2018 (152)
77	ILLUMINA	ss3633769641	Oct 12, 2018 (152)
78	ILLUMINA	ss3634563594	Oct 12, 2018 (152)
79	ILLUMINA	ss3635459356	Oct 12, 2018 (152)
80	ILLUMINA	ss3636252884	Oct 12, 2018 (152)
81	ILLUMINA	ss3637210477	Oct 12, 2018 (152)
82	ILLUMINA	ss3638035084	Oct 12, 2018 (152)
83	ILLUMINA	ss3640270923	Oct 12, 2018 (152)
84	ILLUMINA	ss3641046657	Oct 12, 2018 (152)
85	ILLUMINA	ss3641341641	Oct 12, 2018 (152)
86	ILLUMINA	ss3643023030	Oct 12, 2018 (152)
87	ILLUMINA	ss3644622434	Oct 12, 2018 (152)
88	OMUKHERJEE_ADBS	ss3646455740	Oct 12, 2018 (152)
89	URBANLAB	ss3650139661	Oct 12, 2018 (152)
90	ILLUMINA	ss3651932451	Oct 12, 2018 (152)
91	ILLUMINA	ss3653783579	Oct 12, 2018 (152)
92	EGCUT_WGS	ss3679016197	Jul 13, 2019 (153)
93	EVA_DECODE	ss3696146376	Jul 13, 2019 (153)
94	ILLUMINA	ss3725424803	Jul 13, 2019 (153)
95	ACPOP	ss3740139511	Jul 13, 2019 (153)
96	ILLUMINA	ss3744118077	Jul 13, 2019 (153)
97	ILLUMINA	ss3744864203	Jul 13, 2019 (153)
98	EVA	ss3751994007	Jul 13, 2019 (153)
99	PAGE_CC	ss3771770760	Jul 13, 2019 (153)
100	ILLUMINA	ss3772363231	Jul 13, 2019 (153)
101	PACBIO	ss3787585639	Jul 13, 2019 (153)
102	PACBIO	ss3792635160	Jul 13, 2019 (153)
103	PACBIO	ss3797519163	Jul 13, 2019 (153)
104	KHV_HUMAN_GENOMES	ss3817327439	Jul 13, 2019 (153)
105	EVA	ss3825839981	Apr 27, 2020 (154)
106	EVA	ss3833777478	Apr 27, 2020 (154)
107	SGDP_PRJ	ss3880884337	Apr 27, 2020 (154)
108	KRGDB	ss3929817855	Apr 27, 2020 (154)
109	KOGIC	ss3974372132	Apr 27, 2020 (154)
110	FSA-LAB	ss3984050004	Apr 26, 2021 (155)
111	EVA	ss3984687142	Apr 26, 2021 (155)
112	EVA	ss3985664638	Apr 26, 2021 (155)
113	EVA	ss3986063376	Apr 26, 2021 (155)
114	EVA	ss4017656170	Apr 26, 2021 (155)
115	TOPMED	ss4961592958	Apr 26, 2021 (155)
116	TOMMO_GENOMICS	ss5211925912	Apr 26, 2021 (155)
117	1000G_HIGH_COVERAGE	ss5295232740	Oct 16, 2022 (156)
118	EVA	ss5315716237	Oct 16, 2022 (156)
119	EVA	ss5413513946	Oct 16, 2022 (156)
120	HUGCELL_USP	ss5489448369	Oct 16, 2022 (156)
121	EVA	ss5511147280	Oct 16, 2022 (156)
122	1000G_HIGH_COVERAGE	ss5595021485	Oct 16, 2022 (156)
123	SANFORD_IMAGENETICS	ss5655647964	Oct 16, 2022 (156)
124	TOMMO_GENOMICS	ss5764330688	Oct 16, 2022 (156)
125	EVA	ss5799911668	Oct 16, 2022 (156)
126	YY_MCH	ss5814495020	Oct 16, 2022 (156)
127	EVA	ss5840073787	Oct 16, 2022 (156)
128	EVA	ss5847710476	Oct 16, 2022 (156)
129	EVA	ss5850920571	Oct 16, 2022 (156)
130	EVA	ss5926825790	Oct 16, 2022 (156)
131	EVA	ss5947097465	Oct 16, 2022 (156)
132	1000Genomes	NC_000013.10 - 111165079	Oct 12, 2018 (152)
133	1000Genomes_30x	NC_000013.11 - 110512732	Oct 16, 2022 (156)
134	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 111165079	Oct 12, 2018 (152)
135	Genetic variation in the Estonian population	NC_000013.10 - 111165079	Oct 12, 2018 (152)
136	The Danish reference pan genome	NC_000013.10 - 111165079	Apr 27, 2020 (154)
137	gnomAD - Genomes	NC_000013.11 - 110512732	Apr 26, 2021 (155)
138	Genome of the Netherlands Release 5	NC_000013.10 - 111165079	Apr 27, 2020 (154)
139	HapMap	NC_000013.11 - 110512732	Apr 27, 2020 (154)
140	KOREAN population from KRGDB	NC_000013.10 - 111165079	Apr 27, 2020 (154)
141	Korean Genome Project	NC_000013.11 - 110512732	Apr 27, 2020 (154)
142	Northern Sweden	NC_000013.10 - 111165079	Jul 13, 2019 (153)
143	The PAGE Study	NC_000013.11 - 110512732	Jul 13, 2019 (153)
144	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000013.10 - 111165079	Apr 26, 2021 (155)
145	CNV burdens in cranial meningiomas	NC_000013.10 - 111165079	Apr 26, 2021 (155)
146	Qatari	NC_000013.10 - 111165079	Apr 27, 2020 (154)
147	SGDP_PRJ	NC_000013.10 - 111165079	Apr 27, 2020 (154)
148	Siberian	NC_000013.10 - 111165079	Apr 27, 2020 (154)
149	8.3KJPN	NC_000013.10 - 111165079	Apr 26, 2021 (155)
150	14KJPN	NC_000013.11 - 110512732	Oct 16, 2022 (156)
151	TopMed	NC_000013.11 - 110512732	Apr 26, 2021 (155)
152	UK 10K study - Twins	NC_000013.10 - 111165079	Oct 12, 2018 (152)
153	A Vietnamese Genetic Variation Database	NC_000013.10 - 111165079	Jul 13, 2019 (153)
154	ALFA	NC_000013.11 - 110512732	Apr 26, 2021 (155)
155	ClinVar	RCV000397445.3	Oct 16, 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)
rs3190102	Jul 03, 2002 (106)
rs59348623	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
36995249, ss3929817855	NC_000013.10:111165078:C:A	NC_000013.11:110512731:C:A	(self)
36995249, ss3929817855	NC_000013.10:111165078:C:G	NC_000013.11:110512731:C:G	(self)
ss84657615, ss108119665, ss115321229, ss119018801, ss168690333, ss170805455, ss199732238, ss208642740, ss281889793, ss286790492, ss291538483, ss479294731, ss1694853589, ss1713424909, ss2635049584, ss3643023030	NC_000013.9:109963079:C:T	NC_000013.11:110512731:C:T	(self)
62870241, 34940014, 24754445, 3489209, 15601202, 36995249, 13424376, 890565, 236652, 16264577, 32901317, 8771420, 69895219, 34940014, 7770356, ss226425720, ss236435622, ss242891228, ss479297875, ss479678142, ss484447825, ss536615135, ss563928920, ss659577050, ss778734345, ss782670430, ss783639152, ss831921082, ss834193869, ss990860013, ss1079444556, ss1349930609, ss1427331651, ss1577078184, ss1631187731, ss1674181764, ss1752093707, ss1807800591, ss1934222647, ss1946369335, ss1959530619, ss1967898856, ss2027887627, ss2156255066, ss2628432431, ss2633117173, ss2700654740, ss2710793476, ss2924511770, ss2985011894, ss2985647945, ss3011723878, ss3021542424, ss3350668571, ss3625653134, ss3627158607, ss3631117587, ss3633066701, ss3633769641, ss3634563594, ss3635459356, ss3636252884, ss3637210477, ss3638035084, ss3640270923, ss3641046657, ss3641341641, ss3644622434, ss3646455740, ss3651932451, ss3653783579, ss3679016197, ss3740139511, ss3744118077, ss3744864203, ss3751994007, ss3772363231, ss3787585639, ss3792635160, ss3797519163, ss3825839981, ss3833777478, ss3880884337, ss3929817855, ss3984050004, ss3984687142, ss3985664638, ss3986063376, ss4017656170, ss5211925912, ss5315716237, ss5413513946, ss5511147280, ss5655647964, ss5799911668, ss5840073787, ss5847710476, ss5947097465	NC_000013.10:111165078:C:T	NC_000013.11:110512731:C:T	(self)
RCV000397445.3, 82547420, 443278485, 1091866, 30750133, 992229, 98167792, 177138616, 13816747807, ss2199848924, ss3027767162, ss3650139661, ss3696146376, ss3725424803, ss3771770760, ss3817327439, ss3974372132, ss4961592958, ss5295232740, ss5489448369, ss5595021485, ss5764330688, ss5814495020, ss5850920571, ss5926825790	NC_000013.11:110512731:C:T	NC_000013.11:110512731:C:T	(self)
ss13176776	NT_009952.13:24254754:C:T	NC_000013.11:110512731:C:T	(self)
ss1524011, ss3210366, ss4414975, ss6584997, ss16602748, ss21037970, ss43525300, ss65736370, ss65935685, ss69148715, ss74873906, ss103163131, ss119380316, ss159903056, ss170228618	NT_009952.14:24254754:C:T	NC_000013.11:110512731:C:T	(self)

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

1 citation for rs1049906

PMID	Title	Author	Year	Journal
21527998	Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.	Karolak JA et al.	2011	Molecular vision

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

rs1049906