Name: rs672949
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.

rs672949

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:110227207 (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=0.332991 (103054/309480, ALFA)
T=0.306861 (81223/264690, TOPMED)
T=0.314318 (43946/139814, GnomAD) (+ 23 more)
T=0.24980 (19650/78664, PAGE_STUDY)
T=0.04816 (1361/28258, 14KJPN)
T=0.04809 (806/16760, 8.3KJPN)
T=0.2695 (1726/6404, 1000G_30x)
T=0.2690 (1347/5008, 1000G)
T=0.3199 (1433/4480, Estonian)
T=0.3365 (1297/3854, ALSPAC)
T=0.3403 (1262/3708, TWINSUK)
T=0.0791 (231/2922, KOREAN)
T=0.2447 (510/2084, HGDP_Stanford)
T=0.2764 (523/1892, HapMap)
T=0.3134 (356/1136, Daghestan)
T=0.354 (353/998, GoNL)
T=0.114 (90/792, PRJEB37584)
T=0.217 (136/626, Chileans)
T=0.355 (213/600, NorthernSweden)
C=0.414 (96/232, SGDP_PRJ)
T=0.319 (69/216, Qatari)
T=0.159 (34/214, Vietnamese)
T=0.30 (12/40, GENOME_DK)
C=0.45 (10/22, Siberian)
C=0.50 (8/16, Ancient Sardinia)
T=0.50 (8/16, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: COL4A1 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	314538	C=0.667118	T=0.332882
European	Sub	271294	C=0.656601	T=0.343399
African	Sub	12818	C=0.67850	T=0.32150
African Others	Sub	468	C=0.679	T=0.321
African American	Sub	12350	C=0.67846	T=0.32154
Asian	Sub	3988	C=0.9082	T=0.0918
East Asian	Sub	3210	C=0.9069	T=0.0931
Other Asian	Sub	778	C=0.914	T=0.086
Latin American 1	Sub	1280	C=0.7227	T=0.2773
Latin American 2	Sub	9378	C=0.7963	T=0.2037
South Asian	Sub	5238	C=0.6844	T=0.3156
Other	Sub	10542	C=0.70243	T=0.29757

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
Allele Frequency Aggregator	Total	Global	309480	C=0.667009	T=0.332991
Allele Frequency Aggregator	European	Sub	268182	C=0.656554	T=0.343446
Allele Frequency Aggregator	African	Sub	11676	C=0.67943	T=0.32057
Allele Frequency Aggregator	Other	Sub	9738	C=0.7000	T=0.3000
Allele Frequency Aggregator	Latin American 2	Sub	9378	C=0.7963	T=0.2037
Allele Frequency Aggregator	South Asian	Sub	5238	C=0.6844	T=0.3156
Allele Frequency Aggregator	Asian	Sub	3988	C=0.9082	T=0.0918
Allele Frequency Aggregator	Latin American 1	Sub	1280	C=0.7227	T=0.2773
TopMed	Global	Study-wide	264690	C=0.693139	T=0.306861
gnomAD - Genomes	Global	Study-wide	139814	C=0.685682	T=0.314318
gnomAD - Genomes	European	Sub	75772	C=0.67128	T=0.32872
gnomAD - Genomes	African	Sub	41830	C=0.67966	T=0.32034
gnomAD - Genomes	American	Sub	13614	C=0.76326	T=0.23674
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.5753	T=0.4247
gnomAD - Genomes	East Asian	Sub	3124	C=0.8844	T=0.1156
gnomAD - Genomes	Other	Sub	2154	C=0.7010	T=0.2990
The PAGE Study	Global	Study-wide	78664	C=0.75020	T=0.24980
The PAGE Study	AfricanAmerican	Sub	32500	C=0.67938	T=0.32062
The PAGE Study	Mexican	Sub	10808	C=0.79783	T=0.20217
The PAGE Study	Asian	Sub	8314	C=0.9349	T=0.0651
The PAGE Study	PuertoRican	Sub	7908	C=0.7564	T=0.2436
The PAGE Study	NativeHawaiian	Sub	4532	C=0.8733	T=0.1267
The PAGE Study	Cuban	Sub	4228	C=0.6975	T=0.3025
The PAGE Study	Dominican	Sub	3826	C=0.6769	T=0.3231
The PAGE Study	CentralAmerican	Sub	2450	C=0.8008	T=0.1992
The PAGE Study	SouthAmerican	Sub	1982	C=0.7957	T=0.2043
The PAGE Study	NativeAmerican	Sub	1260	C=0.7278	T=0.2722
The PAGE Study	SouthAsian	Sub	856	C=0.704	T=0.296
14KJPN	JAPANESE	Study-wide	28258	C=0.95184	T=0.04816
8.3KJPN	JAPANESE	Study-wide	16760	C=0.95191	T=0.04809
1000Genomes_30x	Global	Study-wide	6404	C=0.7305	T=0.2695
1000Genomes_30x	African	Sub	1786	C=0.6747	T=0.3253
1000Genomes_30x	Europe	Sub	1266	C=0.6706	T=0.3294
1000Genomes_30x	South Asian	Sub	1202	C=0.6889	T=0.3111
1000Genomes_30x	East Asian	Sub	1170	C=0.8607	T=0.1393
1000Genomes_30x	American	Sub	980	C=0.805	T=0.195
1000Genomes	Global	Study-wide	5008	C=0.7310	T=0.2690
1000Genomes	African	Sub	1322	C=0.6725	T=0.3275
1000Genomes	East Asian	Sub	1008	C=0.8631	T=0.1369
1000Genomes	Europe	Sub	1006	C=0.6740	T=0.3260
1000Genomes	South Asian	Sub	978	C=0.688	T=0.312
1000Genomes	American	Sub	694	C=0.794	T=0.206
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6801	T=0.3199
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6635	T=0.3365
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6597	T=0.3403
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9209	T=0.0791
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7553	T=0.2447
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.881	T=0.119
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.700	T=0.300
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.677	T=0.323
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.644	T=0.356
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.682	T=0.318
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.898	T=0.102
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.94	T=0.06
HapMap	Global	Study-wide	1892	C=0.7236	T=0.2764
HapMap	American	Sub	770	C=0.735	T=0.265
HapMap	African	Sub	692	C=0.645	T=0.355
HapMap	Asian	Sub	254	C=0.937	T=0.063
HapMap	Europe	Sub	176	C=0.676	T=0.324
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.6866	T=0.3134
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.697	T=0.303
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.667	T=0.333
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.787	T=0.213
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.630	T=0.370
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.61	T=0.39
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.61	T=0.39
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.646	T=0.354
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.886	T=0.114
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.886	T=0.114
Chileans	Chilean	Study-wide	626	C=0.783	T=0.217
Northern Sweden	ACPOP	Study-wide	600	C=0.645	T=0.355
SGDP_PRJ	Global	Study-wide	232	C=0.414	T=0.586
Qatari	Global	Study-wide	216	C=0.681	T=0.319
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.841	T=0.159
The Danish reference pan genome	Danish	Study-wide	40	C=0.70	T=0.30
Siberian	Global	Study-wide	22	C=0.45	T=0.55
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	16	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.110227207C>T
GRCh37.p13 chr 13	NC_000013.10:g.110879554C>T
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.84943G>A

Gene: COL4A1, collagen type IV alpha 1 chain (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
COL4A1 transcript variant 2	NM_001303110.2:c.145-1319… NM_001303110.2:c.145-13192G>A	N/A	Intron Variant
COL4A1 transcript variant 1	NM_001845.6:c.145-13192G>A	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 13	NC_000013.11:g.110227207=	NC_000013.11:g.110227207C>T
GRCh37.p13 chr 13	NC_000013.10:g.110879554=	NC_000013.10:g.110879554C>T
COL4A1 RefSeqGene (LRG_1116)	NG_011544.2:g.84943=	NG_011544.2:g.84943G>A
COL4A1 transcript variant 2	NM_001303110.2:c.145-13192=	NM_001303110.2:c.145-13192G>A
COL4A1 transcript	NM_001845.4:c.145-13192=	NM_001845.4:c.145-13192G>A
COL4A1 transcript variant 1	NM_001845.6:c.145-13192=	NM_001845.6:c.145-13192G>A

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#.

135 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss846370	Aug 11, 2000 (83)
2	KWOK	ss1752813	Oct 18, 2000 (87)
3	KWOK	ss1752834	Oct 18, 2000 (87)
4	KWOK	ss1752851	Oct 18, 2000 (87)
5	KWOK	ss1752861	Oct 18, 2000 (87)
6	BCM_SSAHASNP	ss11066540	Jul 11, 2003 (116)
7	SC_SNP	ss13318009	Dec 05, 2003 (119)
8	BCM_SSAHASNP	ss14157571	Dec 05, 2003 (123)
9	PERLEGEN	ss23462406	Sep 20, 2004 (123)
10	AFFY	ss66153646	Dec 01, 2006 (127)
11	ILLUMINA	ss67490824	Dec 01, 2006 (127)
12	ILLUMINA	ss67849929	Dec 01, 2006 (127)
13	ILLUMINA	ss68258005	Dec 12, 2006 (127)
14	PERLEGEN	ss69148549	May 18, 2007 (127)
15	ILLUMINA	ss70882663	May 26, 2008 (130)
16	ILLUMINA	ss71473740	May 18, 2007 (127)
17	ILLUMINA	ss75868019	Dec 06, 2007 (129)
18	AFFY	ss76186507	Dec 06, 2007 (129)
19	HGSV	ss78367867	Dec 06, 2007 (129)
20	KRIBB_YJKIM	ss83514181	Dec 16, 2007 (130)
21	HGSV	ss85551201	Dec 16, 2007 (130)
22	1000GENOMES	ss108116288	Jan 23, 2009 (130)
23	ILLUMINA	ss154378462	Dec 01, 2009 (131)
24	ILLUMINA	ss159554322	Dec 01, 2009 (131)
25	ILLUMINA	ss160803211	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss168687019	Jul 04, 2010 (132)
27	COMPLETE_GENOMICS	ss171747170	Jul 04, 2010 (132)
28	AFFY	ss172745659	Jul 04, 2010 (132)
29	ILLUMINA	ss174088150	Jul 04, 2010 (132)
30	BUSHMAN	ss199727377	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss208599856	Jul 04, 2010 (132)
32	1000GENOMES	ss226423866	Jul 14, 2010 (132)
33	1000GENOMES	ss236434167	Jul 15, 2010 (132)
34	1000GENOMES	ss242890052	Jul 15, 2010 (132)
35	BL	ss255322283	May 09, 2011 (134)
36	GMI	ss281888460	May 04, 2012 (137)
37	PJP	ss291537647	May 09, 2011 (134)
38	ILLUMINA	ss410806160	Sep 17, 2011 (135)
39	ILLUMINA	ss481334055	May 04, 2012 (137)
40	ILLUMINA	ss481359442	May 04, 2012 (137)
41	ILLUMINA	ss482339841	Sep 08, 2015 (146)
42	ILLUMINA	ss485462149	May 04, 2012 (137)
43	ILLUMINA	ss537384727	Sep 08, 2015 (146)
44	TISHKOFF	ss563926883	Apr 25, 2013 (138)
45	SSMP	ss659574725	Apr 25, 2013 (138)
46	ILLUMINA	ss778709067	Sep 08, 2015 (146)
47	ILLUMINA	ss783176559	Sep 08, 2015 (146)
48	ILLUMINA	ss784131968	Sep 08, 2015 (146)
49	ILLUMINA	ss832436159	Sep 08, 2015 (146)
50	ILLUMINA	ss833065490	Jul 13, 2019 (153)
51	ILLUMINA	ss834168200	Sep 08, 2015 (146)
52	EVA-GONL	ss990857114	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1079442205	Aug 21, 2014 (142)
54	1000GENOMES	ss1349920840	Aug 21, 2014 (142)
55	HAMMER_LAB	ss1397672165	Sep 08, 2015 (146)
56	DDI	ss1427330420	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1577076557	Apr 01, 2015 (144)
58	EVA_UK10K_ALSPAC	ss1631182151	Apr 01, 2015 (144)
59	EVA_UK10K_TWINSUK	ss1674176184	Apr 01, 2015 (144)
60	EVA_DECODE	ss1694850702	Apr 01, 2015 (144)
61	EVA_SVP	ss1713424590	Apr 01, 2015 (144)
62	ILLUMINA	ss1752093496	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1807799080	Sep 08, 2015 (146)
64	WEILL_CORNELL_DGM	ss1934219473	Feb 12, 2016 (147)
65	ILLUMINA	ss1946369220	Feb 12, 2016 (147)
66	ILLUMINA	ss1959530150	Feb 12, 2016 (147)
67	JJLAB	ss2027885880	Sep 14, 2016 (149)
68	USC_VALOUEV	ss2156253165	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2199829502	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2628431447	Nov 08, 2017 (151)
71	ILLUMINA	ss2633116576	Nov 08, 2017 (151)
72	ILLUMINA	ss2635049269	Nov 08, 2017 (151)
73	GRF	ss2700652590	Nov 08, 2017 (151)
74	ILLUMINA	ss2710793368	Nov 08, 2017 (151)
75	GNOMAD	ss2924486304	Nov 08, 2017 (151)
76	AFFY	ss2985011725	Nov 08, 2017 (151)
77	AFFY	ss2985647840	Nov 08, 2017 (151)
78	SWEGEN	ss3011719725	Nov 08, 2017 (151)
79	ILLUMINA	ss3021541942	Nov 08, 2017 (151)
80	BIOINF_KMB_FNS_UNIBA	ss3027766001	Nov 08, 2017 (151)
81	CSHL	ss3350666758	Nov 08, 2017 (151)
82	ILLUMINA	ss3625652378	Oct 12, 2018 (152)
83	ILLUMINA	ss3627157672	Oct 12, 2018 (152)
84	ILLUMINA	ss3631117029	Oct 12, 2018 (152)
85	ILLUMINA	ss3633066541	Oct 12, 2018 (152)
86	ILLUMINA	ss3633769474	Oct 12, 2018 (152)
87	ILLUMINA	ss3634563382	Oct 12, 2018 (152)
88	ILLUMINA	ss3635459192	Oct 12, 2018 (152)
89	ILLUMINA	ss3636252666	Oct 12, 2018 (152)
90	ILLUMINA	ss3637210311	Oct 12, 2018 (152)
91	ILLUMINA	ss3638034862	Oct 12, 2018 (152)
92	ILLUMINA	ss3639031143	Oct 12, 2018 (152)
93	ILLUMINA	ss3639825114	Oct 12, 2018 (152)
94	ILLUMINA	ss3640270711	Oct 12, 2018 (152)
95	ILLUMINA	ss3641046594	Oct 12, 2018 (152)
96	ILLUMINA	ss3641341578	Oct 12, 2018 (152)
97	ILLUMINA	ss3643022854	Oct 12, 2018 (152)
98	ILLUMINA	ss3643875846	Oct 12, 2018 (152)
99	ILLUMINA	ss3644622322	Oct 12, 2018 (152)
100	ILLUMINA	ss3651931945	Oct 12, 2018 (152)
101	ILLUMINA	ss3653783418	Oct 12, 2018 (152)
102	EGCUT_WGS	ss3679012160	Jul 13, 2019 (153)
103	EVA_DECODE	ss3696141391	Jul 13, 2019 (153)
104	ILLUMINA	ss3725424388	Jul 13, 2019 (153)
105	ACPOP	ss3740136896	Jul 13, 2019 (153)
106	ILLUMINA	ss3744118010	Jul 13, 2019 (153)
107	ILLUMINA	ss3744863996	Jul 13, 2019 (153)
108	EVA	ss3751990412	Jul 13, 2019 (153)
109	PAGE_CC	ss3771770386	Jul 13, 2019 (153)
110	ILLUMINA	ss3772363025	Jul 13, 2019 (153)
111	KHV_HUMAN_GENOMES	ss3817324035	Jul 13, 2019 (153)
112	EVA	ss3833775812	Apr 27, 2020 (154)
113	EVA	ss3840478785	Apr 27, 2020 (154)
114	EVA	ss3845966876	Apr 27, 2020 (154)
115	HGDP	ss3847494207	Apr 27, 2020 (154)
116	SGDP_PRJ	ss3880878411	Apr 27, 2020 (154)
117	KRGDB	ss3929811696	Apr 27, 2020 (154)
118	EVA	ss3984687065	Apr 26, 2021 (155)
119	EVA	ss3985664364	Apr 26, 2021 (155)
120	EVA	ss4017655970	Apr 26, 2021 (155)
121	TOPMED	ss4961517065	Apr 26, 2021 (155)
122	TOMMO_GENOMICS	ss5211914941	Apr 26, 2021 (155)
123	1000G_HIGH_COVERAGE	ss5295224370	Oct 16, 2022 (156)
124	EVA	ss5315715777	Oct 16, 2022 (156)
125	EVA	ss5413497983	Oct 16, 2022 (156)
126	HUGCELL_USP	ss5489440642	Oct 16, 2022 (156)
127	EVA	ss5511146652	Oct 16, 2022 (156)
128	1000G_HIGH_COVERAGE	ss5595009498	Oct 16, 2022 (156)
129	SANFORD_IMAGENETICS	ss5655642875	Oct 16, 2022 (156)
130	TOMMO_GENOMICS	ss5764316638	Oct 16, 2022 (156)
131	YY_MCH	ss5814492458	Oct 16, 2022 (156)
132	EVA	ss5840069706	Oct 16, 2022 (156)
133	EVA	ss5847710284	Oct 16, 2022 (156)
134	EVA	ss5926815965	Oct 16, 2022 (156)
135	EVA	ss5947092120	Oct 16, 2022 (156)
136	1000Genomes	NC_000013.10 - 110879554	Oct 12, 2018 (152)
137	1000Genomes_30x	NC_000013.11 - 110227207	Oct 16, 2022 (156)
138	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 110879554	Oct 12, 2018 (152)
139	Chileans	NC_000013.10 - 110879554	Apr 27, 2020 (154)
140	Genome-wide autozygosity in Daghestan	NC_000013.9 - 109677555	Apr 27, 2020 (154)
141	Genetic variation in the Estonian population	NC_000013.10 - 110879554	Oct 12, 2018 (152)
142	The Danish reference pan genome	NC_000013.10 - 110879554	Apr 27, 2020 (154)
143	gnomAD - Genomes	NC_000013.11 - 110227207	Apr 26, 2021 (155)
144	Genome of the Netherlands Release 5	NC_000013.10 - 110879554	Apr 27, 2020 (154)
145	HGDP-CEPH-db Supplement 1	NC_000013.9 - 109677555	Apr 27, 2020 (154)
146	HapMap	NC_000013.11 - 110227207	Apr 27, 2020 (154)
147	KOREAN population from KRGDB	NC_000013.10 - 110879554	Apr 27, 2020 (154)
148	Northern Sweden	NC_000013.10 - 110879554	Jul 13, 2019 (153)
149	The PAGE Study	NC_000013.11 - 110227207	Jul 13, 2019 (153)
150	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000013.10 - 110879554	Apr 26, 2021 (155)
151	CNV burdens in cranial meningiomas	NC_000013.10 - 110879554	Apr 26, 2021 (155)
152	Qatari	NC_000013.10 - 110879554	Apr 27, 2020 (154)
153	SGDP_PRJ	NC_000013.10 - 110879554	Apr 27, 2020 (154)
154	Siberian	NC_000013.10 - 110879554	Apr 27, 2020 (154)
155	8.3KJPN	NC_000013.10 - 110879554	Apr 26, 2021 (155)
156	14KJPN	NC_000013.11 - 110227207	Oct 16, 2022 (156)
157	TopMed	NC_000013.11 - 110227207	Apr 26, 2021 (155)
158	UK 10K study - Twins	NC_000013.10 - 110879554	Oct 12, 2018 (152)
159	A Vietnamese Genetic Variation Database	NC_000013.10 - 110879554	Jul 13, 2019 (153)
160	ALFA	NC_000013.11 - 110227207	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)
rs10285252	Sep 24, 2004 (123)
rs16975665	Oct 08, 2004 (123)
rs61308242	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
142633, 172099, ss78367867, ss85551201, ss108116288, ss168687019, ss171747170, ss199727377, ss208599856, ss255322283, ss281888460, ss291537647, ss481334055, ss1397672165, ss1694850702, ss1713424590, ss2635049269, ss3639031143, ss3639825114, ss3643022854, ss3643875846, ss3847494207	NC_000013.9:109677554:C:T	NC_000013.11:110227206:C:T	(self)
62860182, 34934010, 131592, 24750408, 3487825, 15598417, 36989090, 13421761, 890291, 236575, 16261403, 32895391, 8769519, 69884248, 34934010, 7768796, ss226423866, ss236434167, ss242890052, ss481359442, ss482339841, ss485462149, ss537384727, ss563926883, ss659574725, ss778709067, ss783176559, ss784131968, ss832436159, ss833065490, ss834168200, ss990857114, ss1079442205, ss1349920840, ss1427330420, ss1577076557, ss1631182151, ss1674176184, ss1752093496, ss1807799080, ss1934219473, ss1946369220, ss1959530150, ss2027885880, ss2156253165, ss2628431447, ss2633116576, ss2700652590, ss2710793368, ss2924486304, ss2985011725, ss2985647840, ss3011719725, ss3021541942, ss3350666758, ss3625652378, ss3627157672, ss3631117029, ss3633066541, ss3633769474, ss3634563382, ss3635459192, ss3636252666, ss3637210311, ss3638034862, ss3640270711, ss3641046594, ss3641341578, ss3644622322, ss3651931945, ss3653783418, ss3679012160, ss3740136896, ss3744118010, ss3744863996, ss3751990412, ss3772363025, ss3833775812, ss3840478785, ss3880878411, ss3929811696, ss3984687065, ss3985664364, ss4017655970, ss5211914941, ss5315715777, ss5413497983, ss5511146652, ss5655642875, ss5840069706, ss5847710284, ss5947092120	NC_000013.10:110879553:C:T	NC_000013.11:110227206:C:T	(self)
82535433, 443214885, 1091174, 991855, 98153742, 177062723, 11686972118, ss2199829502, ss3027766001, ss3696141391, ss3725424388, ss3771770386, ss3817324035, ss3845966876, ss4961517065, ss5295224370, ss5489440642, ss5595009498, ss5764316638, ss5814492458, ss5926815965	NC_000013.11:110227206:C:T	NC_000013.11:110227206:C:T	(self)
ss11066540, ss13318009	NT_009952.13:23969229:C:T	NC_000013.11:110227206:C:T	(self)
ss846370, ss1752813, ss1752834, ss1752851, ss1752861, ss14157571, ss23462406, ss66153646, ss67490824, ss67849929, ss68258005, ss69148549, ss70882663, ss71473740, ss75868019, ss76186507, ss83514181, ss154378462, ss159554322, ss160803211, ss172745659, ss174088150, ss410806160	NT_009952.14:23969229:C:T	NC_000013.11:110227206: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 rs672949

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).
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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs672949