Name: rs6596294
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.

rs6596294

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:136181148 (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: T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.368148 (97445/264690, TOPMED)
C=0.314206 (57567/183214, ALFA)
C=0.362935 (50792/139948, GnomAD) (+ 20 more)
C=0.40349 (31753/78696, PAGE_STUDY)
C=0.34882 (9857/28258, 14KJPN)
C=0.35173 (5895/16760, 8.3KJPN)
C=0.3685 (2360/6404, 1000G_30x)
C=0.3654 (1830/5008, 1000G)
C=0.2283 (1023/4480, Estonian)
C=0.3197 (1232/3854, ALSPAC)
C=0.3163 (1173/3708, TWINSUK)
C=0.3843 (1126/2930, KOREAN)
C=0.4123 (776/1882, HapMap)
C=0.4105 (752/1832, Korea1K)
C=0.2425 (273/1126, Daghestan)
C=0.287 (286/998, GoNL)
C=0.401 (317/790, PRJEB37584)
C=0.277 (166/600, NorthernSweden)
T=0.358 (108/302, SGDP_PRJ)
C=0.375 (81/216, Qatari)
C=0.403 (87/216, Vietnamese)
C=0.42 (17/40, GENOME_DK)
T=0.44 (7/16, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SMAD5 : 3 Prime UTR 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	188248	T=0.684634	C=0.315366
European	Sub	165664	T=0.697369	C=0.302631
African	Sub	10516	T=0.49087	C=0.50913
African Others	Sub	382	T=0.437	C=0.563
African American	Sub	10134	T=0.49290	C=0.50710
Asian	Sub	704	T=0.651	C=0.349
East Asian	Sub	574	T=0.631	C=0.369
Other Asian	Sub	130	T=0.738	C=0.262
Latin American 1	Sub	688	T=0.608	C=0.392
Latin American 2	Sub	2250	T=0.7240	C=0.2760
South Asian	Sub	192	T=0.849	C=0.151
Other	Sub	8234	T=0.6706	C=0.3294

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	T=0.631852	C=0.368148
Allele Frequency Aggregator	Total	Global	183214	T=0.685794	C=0.314206
Allele Frequency Aggregator	European	Sub	162572	T=0.697223	C=0.302777
Allele Frequency Aggregator	African	Sub	9374	T=0.4925	C=0.5075
Allele Frequency Aggregator	Other	Sub	7434	T=0.6743	C=0.3257
Allele Frequency Aggregator	Latin American 2	Sub	2250	T=0.7240	C=0.2760
Allele Frequency Aggregator	Asian	Sub	704	T=0.651	C=0.349
Allele Frequency Aggregator	Latin American 1	Sub	688	T=0.608	C=0.392
Allele Frequency Aggregator	South Asian	Sub	192	T=0.849	C=0.151
gnomAD - Genomes	Global	Study-wide	139948	T=0.637065	C=0.362935
gnomAD - Genomes	European	Sub	75792	T=0.70920	C=0.29080
gnomAD - Genomes	African	Sub	41938	T=0.48076	C=0.51924
gnomAD - Genomes	American	Sub	13628	T=0.71823	C=0.28177
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.6530	C=0.3470
gnomAD - Genomes	East Asian	Sub	3124	T=0.6242	C=0.3758
gnomAD - Genomes	Other	Sub	2146	T=0.6226	C=0.3774
The PAGE Study	Global	Study-wide	78696	T=0.59651	C=0.40349
The PAGE Study	AfricanAmerican	Sub	32512	T=0.48693	C=0.51307
The PAGE Study	Mexican	Sub	10810	T=0.73691	C=0.26309
The PAGE Study	Asian	Sub	8318	T=0.6499	C=0.3501
The PAGE Study	PuertoRican	Sub	7918	T=0.6538	C=0.3462
The PAGE Study	NativeHawaiian	Sub	4532	T=0.6320	C=0.3680
The PAGE Study	Cuban	Sub	4230	T=0.6541	C=0.3459
The PAGE Study	Dominican	Sub	3828	T=0.5752	C=0.4248
The PAGE Study	CentralAmerican	Sub	2450	T=0.7020	C=0.2980
The PAGE Study	SouthAmerican	Sub	1982	T=0.7331	C=0.2669
The PAGE Study	NativeAmerican	Sub	1260	T=0.6817	C=0.3183
The PAGE Study	SouthAsian	Sub	856	T=0.815	C=0.185
14KJPN	JAPANESE	Study-wide	28258	T=0.65118	C=0.34882
8.3KJPN	JAPANESE	Study-wide	16760	T=0.64827	C=0.35173
1000Genomes_30x	Global	Study-wide	6404	T=0.6315	C=0.3685
1000Genomes_30x	African	Sub	1786	T=0.4110	C=0.5890
1000Genomes_30x	Europe	Sub	1266	T=0.6833	C=0.3167
1000Genomes_30x	South Asian	Sub	1202	T=0.8128	C=0.1872
1000Genomes_30x	East Asian	Sub	1170	T=0.6154	C=0.3846
1000Genomes_30x	American	Sub	980	T=0.763	C=0.237
1000Genomes	Global	Study-wide	5008	T=0.6346	C=0.3654
1000Genomes	African	Sub	1322	T=0.4221	C=0.5779
1000Genomes	East Asian	Sub	1008	T=0.6171	C=0.3829
1000Genomes	Europe	Sub	1006	T=0.6710	C=0.3290
1000Genomes	South Asian	Sub	978	T=0.814	C=0.186
1000Genomes	American	Sub	694	T=0.759	C=0.241
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7717	C=0.2283
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.6803	C=0.3197
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.6837	C=0.3163
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6157	C=0.3843, G=0.0000
HapMap	Global	Study-wide	1882	T=0.5877	C=0.4123
HapMap	American	Sub	764	T=0.685	C=0.315
HapMap	African	Sub	690	T=0.436	C=0.564
HapMap	Asian	Sub	254	T=0.681	C=0.319
HapMap	Europe	Sub	174	T=0.626	C=0.374
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5895	C=0.4105
Genome-wide autozygosity in Daghestan	Global	Study-wide	1126	T=0.7575	C=0.2425
Genome-wide autozygosity in Daghestan	Daghestan	Sub	620	T=0.766	C=0.234
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.771	C=0.229
Genome-wide autozygosity in Daghestan	Central Asia	Sub	120	T=0.817	C=0.183
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.676	C=0.324
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.68	C=0.32
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.81	C=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.713	C=0.287
CNV burdens in cranial meningiomas	Global	Study-wide	790	T=0.599	C=0.401
CNV burdens in cranial meningiomas	CRM	Sub	790	T=0.599	C=0.401
Northern Sweden	ACPOP	Study-wide	600	T=0.723	C=0.277
SGDP_PRJ	Global	Study-wide	302	T=0.358	C=0.642
Qatari	Global	Study-wide	216	T=0.625	C=0.375
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.597	C=0.403
The Danish reference pan genome	Danish	Study-wide	40	T=0.57	C=0.42
Siberian	Global	Study-wide	16	T=0.44	C=0.56

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 5	NC_000005.10:g.136181148T>C
GRCh38.p14 chr 5	NC_000005.10:g.136181148T>G
GRCh37.p13 chr 5	NC_000005.9:g.135516836T>C
GRCh37.p13 chr 5	NC_000005.9:g.135516836T>G
SMAD5 RefSeqGene	NG_032037.1:g.53302T>C
SMAD5 RefSeqGene	NG_032037.1:g.53302T>G

Gene: SMAD5, SMAD family member 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SMAD5 transcript variant 1	NM_005903.7:c.*3668=	N/A	3 Prime UTR Variant
SMAD5 transcript variant 2	NM_001001419.3:c.*3668=	N/A	3 Prime UTR Variant
SMAD5 transcript variant 3	NM_001001420.3:c.*3668=	N/A	3 Prime UTR Variant
SMAD5 transcript variant X1	XM_024446047.2:c.*3668=	N/A	3 Prime UTR Variant
SMAD5 transcript variant X2	XM_024446046.2:c.*3668=	N/A	3 Prime UTR Variant
SMAD5 transcript variant X3	XM_017009470.3:c.*3668=	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.

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	T=	C	G
GRCh38.p14 chr 5	NC_000005.10:g.136181148=	NC_000005.10:g.136181148T>C	NC_000005.10:g.136181148T>G
GRCh37.p13 chr 5	NC_000005.9:g.135516836=	NC_000005.9:g.135516836T>C	NC_000005.9:g.135516836T>G
SMAD5 RefSeqGene	NG_032037.1:g.53302=	NG_032037.1:g.53302T>C	NG_032037.1:g.53302T>G
SMAD5 transcript variant 1	NM_005903.7:c.*3668=	NM_005903.7:c.*3668T>C	NM_005903.7:c.*3668T>G
SMAD5 transcript variant 1	NM_005903.6:c.*3668=	NM_005903.6:c.*3668T>C	NM_005903.6:c.*3668T>G
SMAD5 transcript variant 1	NM_005903.5:c.*3668=	NM_005903.5:c.*3668T>C	NM_005903.5:c.*3668T>G
SMAD5 transcript variant 2	NM_001001419.3:c.*3668=	NM_001001419.3:c.*3668T>C	NM_001001419.3:c.*3668T>G
SMAD5 transcript variant 2	NM_001001419.2:c.*3668=	NM_001001419.2:c.*3668T>C	NM_001001419.2:c.*3668T>G
SMAD5 transcript variant 2	NM_001001419.1:c.*3668=	NM_001001419.1:c.*3668T>C	NM_001001419.1:c.*3668T>G
SMAD5 transcript variant 3	NM_001001420.3:c.*3668=	NM_001001420.3:c.*3668T>C	NM_001001420.3:c.*3668T>G
SMAD5 transcript variant 3	NM_001001420.2:c.*3668=	NM_001001420.2:c.*3668T>C	NM_001001420.2:c.*3668T>G
SMAD5 transcript variant 3	NM_001001420.1:c.*3668=	NM_001001420.1:c.*3668T>C	NM_001001420.1:c.*3668T>G
SMAD5 transcript variant X3	XM_017009470.3:c.*3668=	XM_017009470.3:c.*3668T>C	XM_017009470.3:c.*3668T>G
SMAD5 transcript variant X2	XM_017009470.2:c.*3668=	XM_017009470.2:c.*3668T>C	XM_017009470.2:c.*3668T>G
SMAD5 transcript variant X1	XM_017009470.1:c.*3668=	XM_017009470.1:c.*3668T>C	XM_017009470.1:c.*3668T>G
SMAD5 transcript variant X1	XM_024446047.2:c.*3668=	XM_024446047.2:c.*3668T>C	XM_024446047.2:c.*3668T>G
SMAD5 transcript variant X3	XM_024446047.1:c.*3668=	XM_024446047.1:c.*3668T>C	XM_024446047.1:c.*3668T>G
SMAD5 transcript variant X2	XM_024446046.2:c.*3668=	XM_024446046.2:c.*3668T>C	XM_024446046.2:c.*3668T>G
SMAD5 transcript variant X1	XM_024446046.1:c.*3668=	XM_024446046.1:c.*3668T>C	XM_024446046.1:c.*3668T>G

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#.

120 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10256104	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss11757216	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss14654714	Dec 05, 2003 (119)
4	SSAHASNP	ss22255198	Apr 05, 2004 (121)
5	PERLEGEN	ss23364898	Sep 20, 2004 (123)
6	ILLUMINA	ss65747284	Oct 13, 2006 (127)
7	ILLUMINA	ss74889179	Dec 06, 2007 (129)
8	HGSV	ss78389367	Dec 06, 2007 (129)
9	HGSV	ss85466123	Dec 15, 2007 (130)
10	HUMANGENOME_JCVI	ss98650721	Feb 05, 2009 (130)
11	BGI	ss104242632	Dec 01, 2009 (131)
12	1000GENOMES	ss109443336	Jan 24, 2009 (130)
13	1000GENOMES	ss113317703	Jan 25, 2009 (130)
14	KRIBB_YJKIM	ss119516943	Dec 01, 2009 (131)
15	ENSEMBL	ss143360997	Dec 01, 2009 (131)
16	GMI	ss156071687	Dec 01, 2009 (131)
17	ILLUMINA	ss160791085	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss165917367	Jul 04, 2010 (132)
19	ILLUMINA	ss174045350	Jul 04, 2010 (132)
20	BUSHMAN	ss200909092	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss206838963	Jul 04, 2010 (132)
22	1000GENOMES	ss221985002	Jul 14, 2010 (132)
23	1000GENOMES	ss233162610	Jul 14, 2010 (132)
24	1000GENOMES	ss240280883	Jul 15, 2010 (132)
25	GMI	ss278494190	May 04, 2012 (137)
26	PJP	ss293466974	May 09, 2011 (134)
27	ILLUMINA	ss481296229	May 04, 2012 (137)
28	ILLUMINA	ss481321055	May 04, 2012 (137)
29	ILLUMINA	ss482303434	Sep 08, 2015 (146)
30	ILLUMINA	ss485443370	May 04, 2012 (137)
31	ILLUMINA	ss536378275	Sep 08, 2015 (146)
32	TISHKOFF	ss558735116	Apr 25, 2013 (138)
33	SSMP	ss652634191	Apr 25, 2013 (138)
34	ILLUMINA	ss778574126	Aug 21, 2014 (142)
35	ILLUMINA	ss783167138	Aug 21, 2014 (142)
36	ILLUMINA	ss784122779	Aug 21, 2014 (142)
37	ILLUMINA	ss832426609	Apr 01, 2015 (144)
38	ILLUMINA	ss834031176	Aug 21, 2014 (142)
39	EVA-GONL	ss982159130	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1073068125	Aug 21, 2014 (142)
41	1000GENOMES	ss1317352253	Aug 21, 2014 (142)
42	HAMMER_LAB	ss1397428636	Sep 08, 2015 (146)
43	DDI	ss1430513222	Apr 01, 2015 (144)
44	EVA_GENOME_DK	ss1581364505	Apr 01, 2015 (144)
45	EVA_DECODE	ss1591687210	Apr 01, 2015 (144)
46	EVA_UK10K_ALSPAC	ss1614084830	Apr 01, 2015 (144)
47	EVA_UK10K_TWINSUK	ss1657078863	Apr 01, 2015 (144)
48	EVA_SVP	ss1712802670	Apr 01, 2015 (144)
49	ILLUMINA	ss1752549945	Sep 08, 2015 (146)
50	HAMMER_LAB	ss1804097037	Sep 08, 2015 (146)
51	WEILL_CORNELL_DGM	ss1925415918	Feb 12, 2016 (147)
52	ILLUMINA	ss1946155844	Feb 12, 2016 (147)
53	ILLUMINA	ss1958825053	Feb 12, 2016 (147)
54	GENOMED	ss1970216020	Jul 19, 2016 (147)
55	JJLAB	ss2023313774	Sep 14, 2016 (149)
56	USC_VALOUEV	ss2151470775	Dec 20, 2016 (150)
57	HUMAN_LONGEVITY	ss2278436540	Dec 20, 2016 (150)
58	SYSTEMSBIOZJU	ss2626145301	Nov 08, 2017 (151)
59	ILLUMINA	ss2634343950	Nov 08, 2017 (151)
60	GRF	ss2707035081	Nov 08, 2017 (151)
61	ILLUMINA	ss2711049800	Nov 08, 2017 (151)
62	GNOMAD	ss2831154607	Nov 08, 2017 (151)
63	SWEGEN	ss2997845909	Nov 08, 2017 (151)
64	ILLUMINA	ss3022532523	Nov 08, 2017 (151)
65	BIOINF_KMB_FNS_UNIBA	ss3025439714	Nov 08, 2017 (151)
66	CSHL	ss3346643579	Nov 08, 2017 (151)
67	ILLUMINA	ss3625884157	Oct 12, 2018 (152)
68	ILLUMINA	ss3629348185	Oct 12, 2018 (152)
69	ILLUMINA	ss3632267810	Oct 12, 2018 (152)
70	ILLUMINA	ss3633390951	Oct 12, 2018 (152)
71	ILLUMINA	ss3634112189	Oct 12, 2018 (152)
72	ILLUMINA	ss3635023284	Oct 12, 2018 (152)
73	ILLUMINA	ss3635793912	Oct 12, 2018 (152)
74	ILLUMINA	ss3636736938	Oct 12, 2018 (152)
75	ILLUMINA	ss3637546554	Oct 12, 2018 (152)
76	ILLUMINA	ss3638582268	Oct 12, 2018 (152)
77	ILLUMINA	ss3640730579	Oct 12, 2018 (152)
78	ILLUMINA	ss3643526080	Oct 12, 2018 (152)
79	ILLUMINA	ss3644888852	Oct 12, 2018 (152)
80	OMUKHERJEE_ADBS	ss3646324703	Oct 12, 2018 (152)
81	URBANLAB	ss3648176357	Oct 12, 2018 (152)
82	ILLUMINA	ss3653034634	Oct 12, 2018 (152)
83	EGCUT_WGS	ss3665760204	Jul 13, 2019 (153)
84	EVA_DECODE	ss3715765899	Jul 13, 2019 (153)
85	ILLUMINA	ss3726273016	Jul 13, 2019 (153)
86	ACPOP	ss3732845988	Jul 13, 2019 (153)
87	ILLUMINA	ss3744260238	Jul 13, 2019 (153)
88	ILLUMINA	ss3745323470	Jul 13, 2019 (153)
89	EVA	ss3764102824	Jul 13, 2019 (153)
90	PAGE_CC	ss3771233063	Jul 13, 2019 (153)
91	ILLUMINA	ss3772817487	Jul 13, 2019 (153)
92	PACBIO	ss3785259100	Jul 13, 2019 (153)
93	PACBIO	ss3790641291	Jul 13, 2019 (153)
94	PACBIO	ss3795518247	Jul 13, 2019 (153)
95	KHV_HUMAN_GENOMES	ss3807276956	Jul 13, 2019 (153)
96	EVA	ss3829521482	Apr 26, 2020 (154)
97	EVA	ss3838234933	Apr 26, 2020 (154)
98	EVA	ss3843677600	Apr 26, 2020 (154)
99	SGDP_PRJ	ss3863046976	Apr 26, 2020 (154)
100	KRGDB	ss3909692894	Apr 26, 2020 (154)
101	KOGIC	ss3957709226	Apr 26, 2020 (154)
102	FSA-LAB	ss3984316313	Apr 26, 2021 (155)
103	EVA	ss3984554803	Apr 26, 2021 (155)
104	EVA	ss4017232818	Apr 26, 2021 (155)
105	TOPMED	ss4679878214	Apr 26, 2021 (155)
106	TOMMO_GENOMICS	ss5174289573	Apr 26, 2021 (155)
107	1000G_HIGH_COVERAGE	ss5265961990	Oct 17, 2022 (156)
108	EVA	ss5315088495	Oct 17, 2022 (156)
109	HUGCELL_USP	ss5463917603	Oct 17, 2022 (156)
110	EVA	ss5508227232	Oct 17, 2022 (156)
111	1000G_HIGH_COVERAGE	ss5550670166	Oct 17, 2022 (156)
112	SANFORD_IMAGENETICS	ss5638950981	Oct 17, 2022 (156)
113	TOMMO_GENOMICS	ss5711409687	Oct 17, 2022 (156)
114	EVA	ss5799663105	Oct 17, 2022 (156)
115	YY_MCH	ss5806794365	Oct 17, 2022 (156)
116	EVA	ss5835687834	Oct 17, 2022 (156)
117	EVA	ss5848065292	Oct 17, 2022 (156)
118	EVA	ss5855031379	Oct 17, 2022 (156)
119	EVA	ss5896459178	Oct 17, 2022 (156)
120	EVA	ss5967420672	Oct 17, 2022 (156)
121	1000Genomes	NC_000005.9 - 135516836	Oct 12, 2018 (152)
122	1000Genomes_30x	NC_000005.10 - 136181148	Oct 17, 2022 (156)
123	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 135516836	Oct 12, 2018 (152)
124	Genome-wide autozygosity in Daghestan	NC_000005.8 - 135544735	Apr 26, 2020 (154)
125	Genetic variation in the Estonian population	NC_000005.9 - 135516836	Oct 12, 2018 (152)
126	The Danish reference pan genome	NC_000005.9 - 135516836	Apr 26, 2020 (154)
127	gnomAD - Genomes	NC_000005.10 - 136181148	Apr 26, 2021 (155)
128	Genome of the Netherlands Release 5	NC_000005.9 - 135516836	Apr 26, 2020 (154)
129	HapMap	NC_000005.10 - 136181148	Apr 26, 2020 (154)
130	KOREAN population from KRGDB	NC_000005.9 - 135516836	Apr 26, 2020 (154)
131	Korean Genome Project	NC_000005.10 - 136181148	Apr 26, 2020 (154)
132	Northern Sweden	NC_000005.9 - 135516836	Jul 13, 2019 (153)
133	The PAGE Study	NC_000005.10 - 136181148	Jul 13, 2019 (153)
134	CNV burdens in cranial meningiomas	NC_000005.9 - 135516836	Apr 26, 2021 (155)
135	Qatari	NC_000005.9 - 135516836	Apr 26, 2020 (154)
136	SGDP_PRJ	NC_000005.9 - 135516836	Apr 26, 2020 (154)
137	Siberian	NC_000005.9 - 135516836	Apr 26, 2020 (154)
138	8.3KJPN	NC_000005.9 - 135516836	Apr 26, 2021 (155)
139	14KJPN	NC_000005.10 - 136181148	Oct 17, 2022 (156)
140	TopMed	NC_000005.10 - 136181148	Apr 26, 2021 (155)
141	UK 10K study - Twins	NC_000005.9 - 135516836	Oct 12, 2018 (152)
142	A Vietnamese Genetic Variation Database	NC_000005.9 - 135516836	Jul 13, 2019 (153)
143	ALFA	NC_000005.10 - 136181148	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)
rs58428608	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
403482, ss78389367, ss85466123, ss109443336, ss113317703, ss160791085, ss165917367, ss200909092, ss206838963, ss278494190, ss293466974, ss481296229, ss1397428636, ss1591687210, ss1712802670, ss3643526080	NC_000005.8:135544734:T:C	NC_000005.10:136181147:T:C	(self)
29035582, 16151119, 11498452, 7529444, 7177311, 16870288, 6130853, 104174, 7457848, 15063956, 3987129, 32258880, 16151119, 3581961, ss221985002, ss233162610, ss240280883, ss481321055, ss482303434, ss485443370, ss536378275, ss558735116, ss652634191, ss778574126, ss783167138, ss784122779, ss832426609, ss834031176, ss982159130, ss1073068125, ss1317352253, ss1430513222, ss1581364505, ss1614084830, ss1657078863, ss1752549945, ss1804097037, ss1925415918, ss1946155844, ss1958825053, ss1970216020, ss2023313774, ss2151470775, ss2626145301, ss2634343950, ss2707035081, ss2711049800, ss2831154607, ss2997845909, ss3022532523, ss3346643579, ss3625884157, ss3629348185, ss3632267810, ss3633390951, ss3634112189, ss3635023284, ss3635793912, ss3636736938, ss3637546554, ss3638582268, ss3640730579, ss3644888852, ss3646324703, ss3653034634, ss3665760204, ss3732845988, ss3744260238, ss3745323470, ss3764102824, ss3772817487, ss3785259100, ss3790641291, ss3795518247, ss3829521482, ss3838234933, ss3863046976, ss3909692894, ss3984316313, ss3984554803, ss4017232818, ss5174289573, ss5315088495, ss5508227232, ss5638950981, ss5799663105, ss5835687834, ss5848065292, ss5967420672	NC_000005.9:135516835:T:C	NC_000005.10:136181147:T:C	(self)
38196101, 205348464, 2975088, 14087227, 454532, 45246791, 517255771, 6522862342, ss2278436540, ss3025439714, ss3648176357, ss3715765899, ss3726273016, ss3771233063, ss3807276956, ss3843677600, ss3957709226, ss4679878214, ss5265961990, ss5463917603, ss5550670166, ss5711409687, ss5806794365, ss5855031379, ss5896459178	NC_000005.10:136181147:T:C	NC_000005.10:136181147:T:C	(self)
ss10256104, ss11757216	NT_034772.4:37931856:T:C	NC_000005.10:136181147:T:C	(self)
ss14654714, ss22255198	NT_034772.5:37931848:T:C	NC_000005.10:136181147:T:C	(self)
ss23364898, ss65747284, ss74889179, ss98650721, ss104242632, ss119516943, ss143360997, ss156071687, ss174045350	NT_034772.6:43830707:T:C	NC_000005.10:136181147:T:C	(self)
16870288, ss3909692894	NC_000005.9:135516835:T:G	NC_000005.10:136181147:T:G	(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 rs6596294

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6596294