Name: rs778593
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.

rs778593

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:140647631 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.371589 (98356/264690, TOPMED)
C=0.416773 (89502/214750, GnomAD_exome)
C=0.386656 (54186/140140, GnomAD) (+ 21 more)
C=0.47733 (37734/79052, ExAC)
C=0.40573 (22259/54862, ALFA)
C=0.49554 (14003/28258, 14KJPN)
C=0.49457 (8289/16760, 8.3KJPN)
C=0.36861 (4786/12984, GO-ESP)
C=0.3755 (2405/6404, 1000G_30x)
C=0.3778 (1892/5008, 1000G)
C=0.4522 (2026/4480, Estonian)
C=0.4180 (1611/3854, ALSPAC)
C=0.4159 (1542/3708, TWINSUK)
C=0.4173 (1222/2928, KOREAN)
C=0.4334 (794/1832, Korea1K)
C=0.3899 (439/1126, Daghestan)
C=0.407 (406/998, GoNL)
C=0.448 (269/600, NorthernSweden)
C=0.307 (164/534, MGP)
T=0.323 (122/378, SGDP_PRJ)
C=0.296 (64/216, Qatari)
C=0.462 (98/212, Vietnamese)
C=0.20 (8/40, GENOME_DK)
T=0.37 (14/38, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TMCO6 : 3 Prime UTR Variant
IK : 2KB Upstream Variant
MIR3655 : 2KB Upstream Variant (+ 1 more)
NDUFA2 : 2KB Upstream 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	54862	T=0.59427	C=0.40573
European	Sub	38146	T=0.58030	C=0.41970
African	Sub	4214	T=0.6879	C=0.3121
African Others	Sub	152	T=0.717	C=0.283
African American	Sub	4062	T=0.6869	C=0.3131
Asian	Sub	214	T=0.556	C=0.444
East Asian	Sub	148	T=0.588	C=0.412
Other Asian	Sub	66	T=0.48	C=0.52
Latin American 1	Sub	326	T=0.647	C=0.353
Latin American 2	Sub	5278	T=0.6239	C=0.3761
South Asian	Sub	152	T=0.566	C=0.434
Other	Sub	6532	T=0.5908	C=0.4092

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=0.628411	C=0.371589
gnomAD - Exomes	Global	Study-wide	214750	T=0.583227	C=0.416773
gnomAD - Exomes	European	Sub	110876	T=0.564820	C=0.435180
gnomAD - Exomes	Asian	Sub	44840	T=0.57328	C=0.42672
gnomAD - Exomes	American	Sub	31586	T=0.61511	C=0.38489
gnomAD - Exomes	African	Sub	12520	T=0.71134	C=0.28866
gnomAD - Exomes	Ashkenazi Jewish	Sub	9394	T=0.5752	C=0.4248
gnomAD - Exomes	Other	Sub	5534	T=0.5744	C=0.4256
gnomAD - Genomes	Global	Study-wide	140140	T=0.613344	C=0.386656
gnomAD - Genomes	European	Sub	75896	T=0.56815	C=0.43185
gnomAD - Genomes	African	Sub	42000	T=0.70693	C=0.29307
gnomAD - Genomes	American	Sub	13646	T=0.60516	C=0.39484
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.5654	C=0.4346
gnomAD - Genomes	East Asian	Sub	3126	T=0.5448	C=0.4552
gnomAD - Genomes	Other	Sub	2152	T=0.6064	C=0.3936
ExAC	Global	Study-wide	79052	T=0.52267	C=0.47733
ExAC	Europe	Sub	47018	T=0.50096	C=0.49904
ExAC	Asian	Sub	19038	T=0.53782	C=0.46218
ExAC	American	Sub	6868	T=0.5368	C=0.4632
ExAC	African	Sub	5530	T=0.6365	C=0.3635
ExAC	Other	Sub	598	T=0.532	C=0.468
Allele Frequency Aggregator	Total	Global	54862	T=0.59427	C=0.40573
Allele Frequency Aggregator	European	Sub	38146	T=0.58030	C=0.41970
Allele Frequency Aggregator	Other	Sub	6532	T=0.5908	C=0.4092
Allele Frequency Aggregator	Latin American 2	Sub	5278	T=0.6239	C=0.3761
Allele Frequency Aggregator	African	Sub	4214	T=0.6879	C=0.3121
Allele Frequency Aggregator	Latin American 1	Sub	326	T=0.647	C=0.353
Allele Frequency Aggregator	Asian	Sub	214	T=0.556	C=0.444
Allele Frequency Aggregator	South Asian	Sub	152	T=0.566	C=0.434
14KJPN	JAPANESE	Study-wide	28258	T=0.50446	C=0.49554
8.3KJPN	JAPANESE	Study-wide	16760	T=0.50543	C=0.49457
GO Exome Sequencing Project	Global	Study-wide	12984	T=0.63139	C=0.36861
GO Exome Sequencing Project	European American	Sub	8592	T=0.5888	C=0.4112
GO Exome Sequencing Project	African American	Sub	4392	T=0.7147	C=0.2853
1000Genomes_30x	Global	Study-wide	6404	T=0.6245	C=0.3755
1000Genomes_30x	African	Sub	1786	T=0.7234	C=0.2766
1000Genomes_30x	Europe	Sub	1266	T=0.5916	C=0.4084
1000Genomes_30x	South Asian	Sub	1202	T=0.5541	C=0.4459
1000Genomes_30x	East Asian	Sub	1170	T=0.5504	C=0.4496
1000Genomes_30x	American	Sub	980	T=0.661	C=0.339
1000Genomes	Global	Study-wide	5008	T=0.6222	C=0.3778
1000Genomes	African	Sub	1322	T=0.7269	C=0.2731
1000Genomes	East Asian	Sub	1008	T=0.5506	C=0.4494
1000Genomes	Europe	Sub	1006	T=0.5964	C=0.4036
1000Genomes	South Asian	Sub	978	T=0.550	C=0.450
1000Genomes	American	Sub	694	T=0.666	C=0.334
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5478	C=0.4522
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5820	C=0.4180
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5841	C=0.4159
KOREAN population from KRGDB	KOREAN	Study-wide	2928	T=0.5827	C=0.4173
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5666	C=0.4334
Genome-wide autozygosity in Daghestan	Global	Study-wide	1126	T=0.6101	C=0.3899
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.642	C=0.358
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	T=0.535	C=0.465
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	T=0.576	C=0.424
Genome-wide autozygosity in Daghestan	Europe	Sub	104	T=0.558	C=0.442
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.50	C=0.50
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.92	C=0.08
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.593	C=0.407
Northern Sweden	ACPOP	Study-wide	600	T=0.552	C=0.448
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.693	C=0.307
SGDP_PRJ	Global	Study-wide	378	T=0.323	C=0.677
Qatari	Global	Study-wide	216	T=0.704	C=0.296
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.538	C=0.462
The Danish reference pan genome	Danish	Study-wide	40	T=0.80	C=0.20
Siberian	Global	Study-wide	38	T=0.37	C=0.63

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.140647631T>C
GRCh37.p13 chr 5	NC_000005.9:g.140027216T>C
NDUFA2 RefSeqGene	NG_021417.1:g.5155A>G

Gene: TMCO6, transmembrane and coiled-coil domains 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMCO6 transcript variant 1	NM_001300980.2:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant 3	NM_001300982.2:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant 2	NM_018502.5:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X5	XM_047417354.1:c.*814=	N/A	3 Prime UTR Variant
TMCO6 transcript variant X1	XM_005268477.2:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X4	XM_011537663.3:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X9	XM_011537665.3:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X2	XM_017009618.2:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X6	XM_024446124.2:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X12	XM_024446125.2:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X3	XM_047417353.1:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X7	XM_047417355.1:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X8	XM_047417356.1:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X10	XM_047417357.1:c.	N/A	Genic Downstream Transcript Variant
TMCO6 transcript variant X11	XM_047417358.1:c.	N/A	Genic Downstream Transcript Variant

Gene: NDUFA2, NADH:ubiquinone oxidoreductase subunit A2 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
NDUFA2 transcript variant 2	NM_001185012.2:c.	N/A	Upstream Transcript Variant
NDUFA2 transcript variant 1	NM_002488.5:c.	N/A	Upstream Transcript Variant
NDUFA2 transcript variant 3	NR_033697.2:n.	N/A	Upstream Transcript Variant

Gene: IK, IK cytokine (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
IK transcript	NM_006083.4:c.	N/A	Upstream Transcript Variant

Gene: MIR3655, microRNA 3655 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MIR3655 transcript	NR_037428.1:n.	N/A	Upstream Transcript 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: C (allele ID: 295653 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000355665.5	Mitochondrial complex I deficiency, nuclear type 1	Benign
RCV001672651.4	not provided	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	T=	C
GRCh38.p14 chr 5	NC_000005.10:g.140647631=	NC_000005.10:g.140647631T>C
GRCh37.p13 chr 5	NC_000005.9:g.140027216=	NC_000005.9:g.140027216T>C
NDUFA2 RefSeqGene	NG_021417.1:g.5155=	NG_021417.1:g.5155A>G
NDUFA2 transcript variant 1	NM_002488.4:c.-48=	NM_002488.4:c.-48A>G
TMCO6 transcript variant X5	XM_047417354.1:c.*814=	XM_047417354.1:c.*814T>C
NDUFA2 transcript variant 3	NR_033697.1:n.155=	NR_033697.1:n.155A>G
NDUFA2 transcript variant 2	NM_001185012.1:c.-48=	NM_001185012.1:c.-48A>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#.

108 SubSNP, 24 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss910341	Oct 05, 2000 (86)
2	SC_JCM	ss3607514	Sep 28, 2001 (100)
3	RIKENSNPRC	ss5601034	Dec 12, 2002 (110)
4	PERLEGEN	ss24145263	Sep 20, 2004 (123)
5	KYUGEN	ss28461090	Sep 20, 2004 (123)
6	HGSV	ss82868785	Dec 14, 2007 (130)
7	BCMHGSC_JDW	ss93269062	Mar 24, 2008 (129)
8	1000GENOMES	ss109460579	Jan 24, 2009 (130)
9	ILLUMINA-UK	ss116832912	Feb 14, 2009 (130)
10	ENSEMBL	ss143483898	Dec 01, 2009 (131)
11	ILLUMINA	ss152536454	Dec 01, 2009 (131)
12	GMI	ss156093900	Dec 01, 2009 (131)
13	ILLUMINA	ss159102642	Dec 01, 2009 (131)
14	ILLUMINA	ss159846004	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss162714014	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss167145375	Jul 04, 2010 (132)
17	ILLUMINA	ss168871039	Jul 04, 2010 (132)
18	ILLUMINA	ss169036212	Jul 04, 2010 (132)
19	BUSHMAN	ss200936896	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss206970441	Jul 04, 2010 (132)
21	1000GENOMES	ss221997040	Jul 14, 2010 (132)
22	1000GENOMES	ss233170976	Jul 14, 2010 (132)
23	1000GENOMES	ss240287691	Jul 15, 2010 (132)
24	BL	ss253846289	May 09, 2011 (134)
25	GMI	ss278502537	May 04, 2012 (137)
26	PJP	ss293471511	May 09, 2011 (134)
27	ILLUMINA	ss479154449	Sep 08, 2015 (146)
28	ILLUMINA	ss482942785	May 04, 2012 (137)
29	ILLUMINA	ss484946039	May 04, 2012 (137)
30	1000GENOMES	ss490911507	May 04, 2012 (137)
31	ILLUMINA	ss534853504	Sep 08, 2015 (146)
32	TISHKOFF	ss558749503	Apr 25, 2013 (138)
33	SSMP	ss652649742	Apr 25, 2013 (138)
34	NHLBI-ESP	ss712661668	Apr 25, 2013 (138)
35	ILLUMINA	ss778675346	Aug 21, 2014 (142)
36	ILLUMINA	ss781929075	Aug 21, 2014 (142)
37	ILLUMINA	ss832615438	Jul 13, 2019 (153)
38	ILLUMINA	ss834133802	Aug 21, 2014 (142)
39	EVA-GONL	ss982186017	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1073085608	Aug 21, 2014 (142)
41	1000GENOMES	ss1317463763	Aug 21, 2014 (142)
42	HAMMER_LAB	ss1397429125	Sep 08, 2015 (146)
43	EVA_GENOME_DK	ss1581373581	Apr 01, 2015 (144)
44	EVA_DECODE	ss1591715441	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1614144159	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1657138192	Apr 01, 2015 (144)
47	EVA_EXAC	ss1687976840	Apr 01, 2015 (144)
48	EVA_MGP	ss1711099242	Apr 01, 2015 (144)
49	HAMMER_LAB	ss1804107049	Sep 08, 2015 (146)
50	WEILL_CORNELL_DGM	ss1925441259	Feb 12, 2016 (147)
51	GENOMED	ss1970220902	Jul 19, 2016 (147)
52	JJLAB	ss2023326067	Sep 14, 2016 (149)
53	USC_VALOUEV	ss2151484453	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2278679674	Dec 20, 2016 (150)
55	SYSTEMSBIOZJU	ss2626150842	Nov 08, 2017 (151)
56	ILLUMINA	ss2634346892	Nov 08, 2017 (151)
57	GRF	ss2707049727	Nov 08, 2017 (151)
58	GNOMAD	ss2735265008	Nov 08, 2017 (151)
59	GNOMAD	ss2747462747	Nov 08, 2017 (151)
60	GNOMAD	ss2831495512	Nov 08, 2017 (151)
61	SWEGEN	ss2997891339	Nov 08, 2017 (151)
62	BIOINF_KMB_FNS_UNIBA	ss3025445482	Nov 08, 2017 (151)
63	CSHL	ss3346653644	Nov 08, 2017 (151)
64	ILLUMINA	ss3629353860	Oct 12, 2018 (152)
65	ILLUMINA	ss3632270540	Oct 12, 2018 (152)
66	ILLUMINA	ss3636738046	Oct 12, 2018 (152)
67	ILLUMINA	ss3638583904	Oct 12, 2018 (152)
68	ILLUMINA	ss3638583905	Oct 12, 2018 (152)
69	OMUKHERJEE_ADBS	ss3646325025	Oct 12, 2018 (152)
70	EGCUT_WGS	ss3665807474	Jul 13, 2019 (153)
71	EVA_DECODE	ss3715819912	Jul 13, 2019 (153)
72	ACPOP	ss3732867905	Jul 13, 2019 (153)
73	EVA	ss3764136236	Jul 13, 2019 (153)
74	KHV_HUMAN_GENOMES	ss3807306458	Jul 13, 2019 (153)
75	EVA	ss3824117213	Apr 26, 2020 (154)
76	EVA	ss3825681207	Apr 26, 2020 (154)
77	EVA	ss3829533074	Apr 26, 2020 (154)
78	EVA	ss3838241109	Apr 26, 2020 (154)
79	EVA	ss3843683908	Apr 26, 2020 (154)
80	SGDP_PRJ	ss3863101160	Apr 26, 2020 (154)
81	KRGDB	ss3909761693	Apr 26, 2020 (154)
82	KOGIC	ss3957765118	Apr 26, 2020 (154)
83	FSA-LAB	ss3984317257	Apr 26, 2021 (155)
84	FSA-LAB	ss3984317258	Apr 26, 2021 (155)
85	EVA	ss3986031639	Apr 26, 2021 (155)
86	EVA	ss3986320848	Apr 26, 2021 (155)
87	TOPMED	ss4680915078	Apr 26, 2021 (155)
88	TOMMO_GENOMICS	ss5174424918	Apr 26, 2021 (155)
89	EVA	ss5237187281	Apr 26, 2021 (155)
90	EVA	ss5237644378	Oct 17, 2022 (156)
91	1000G_HIGH_COVERAGE	ss5266059993	Oct 17, 2022 (156)
92	EVA	ss5315089988	Oct 17, 2022 (156)
93	EVA	ss5361366006	Oct 17, 2022 (156)
94	HUGCELL_USP	ss5464004147	Oct 17, 2022 (156)
95	EVA	ss5508234993	Oct 17, 2022 (156)
96	1000G_HIGH_COVERAGE	ss5550821228	Oct 17, 2022 (156)
97	EVA	ss5624150533	Oct 17, 2022 (156)
98	SANFORD_IMAGENETICS	ss5639002493	Oct 17, 2022 (156)
99	TOMMO_GENOMICS	ss5711588030	Oct 17, 2022 (156)
100	EVA	ss5800054547	Oct 17, 2022 (156)
101	EVA	ss5800124298	Oct 17, 2022 (156)
102	YY_MCH	ss5806816426	Oct 17, 2022 (156)
103	EVA	ss5835725500	Oct 17, 2022 (156)
104	EVA	ss5848635723	Oct 17, 2022 (156)
105	EVA	ss5855041266	Oct 17, 2022 (156)
106	EVA	ss5896572791	Oct 17, 2022 (156)
107	EVA	ss5967476136	Oct 17, 2022 (156)
108	EVA	ss5980319781	Oct 17, 2022 (156)
109	1000Genomes	NC_000005.9 - 140027216	Oct 12, 2018 (152)
110	1000Genomes_30x	NC_000005.10 - 140647631	Oct 17, 2022 (156)
111	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 140027216	Oct 12, 2018 (152)
112	Genome-wide autozygosity in Daghestan	NC_000005.8 - 140007400	Apr 26, 2020 (154)
113	Genetic variation in the Estonian population	NC_000005.9 - 140027216	Oct 12, 2018 (152)
114	ExAC	NC_000005.9 - 140027216	Oct 12, 2018 (152)
115	The Danish reference pan genome	NC_000005.9 - 140027216	Apr 26, 2020 (154)
116	gnomAD - Genomes	NC_000005.10 - 140647631	Apr 26, 2021 (155)
117	gnomAD - Exomes	NC_000005.9 - 140027216	Jul 13, 2019 (153)
118	GO Exome Sequencing Project	NC_000005.9 - 140027216	Oct 12, 2018 (152)
119	Genome of the Netherlands Release 5	NC_000005.9 - 140027216	Apr 26, 2020 (154)
120	KOREAN population from KRGDB	NC_000005.9 - 140027216	Apr 26, 2020 (154)
121	Korean Genome Project	NC_000005.10 - 140647631	Apr 26, 2020 (154)
122	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 140027216	Apr 26, 2020 (154)
123	Northern Sweden	NC_000005.9 - 140027216	Jul 13, 2019 (153)
124	Qatari	NC_000005.9 - 140027216	Apr 26, 2020 (154)
125	SGDP_PRJ	NC_000005.9 - 140027216	Apr 26, 2020 (154)
126	Siberian	NC_000005.9 - 140027216	Apr 26, 2020 (154)
127	8.3KJPN	NC_000005.9 - 140027216	Apr 26, 2021 (155)
128	14KJPN	NC_000005.10 - 140647631	Oct 17, 2022 (156)
129	TopMed	NC_000005.10 - 140647631	Apr 26, 2021 (155)
130	UK 10K study - Twins	NC_000005.9 - 140027216	Oct 12, 2018 (152)
131	A Vietnamese Genetic Variation Database	NC_000005.9 - 140027216	Jul 13, 2019 (153)
132	ALFA	NC_000005.10 - 140647631	Apr 26, 2021 (155)
133	ClinVar	RCV000355665.5	Oct 17, 2022 (156)
134	ClinVar	RCV001672651.4	Oct 17, 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)
rs3088318	Jul 03, 2002 (106)
rs56910213	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
403962, ss82868785, ss93269062, ss109460579, ss116832912, ss162714014, ss167145375, ss200936896, ss206970441, ss253846289, ss278502537, ss293471511, ss484946039, ss1397429125, ss1591715441	NC_000005.8:140007399:T:C	NC_000005.10:140647630:T:C	(self)
29151062, 16216449, 11545722, 7982394, 7538520, 4389487, 575310, 7203228, 16939087, 215002, 6152770, 7483189, 15118140, 4000807, 32394225, 16216449, 3593854, ss221997040, ss233170976, ss240287691, ss479154449, ss482942785, ss490911507, ss534853504, ss558749503, ss652649742, ss712661668, ss778675346, ss781929075, ss832615438, ss834133802, ss982186017, ss1073085608, ss1317463763, ss1581373581, ss1614144159, ss1657138192, ss1687976840, ss1711099242, ss1804107049, ss1925441259, ss1970220902, ss2023326067, ss2151484453, ss2626150842, ss2634346892, ss2707049727, ss2735265008, ss2747462747, ss2831495512, ss2997891339, ss3346653644, ss3629353860, ss3632270540, ss3636738046, ss3638583904, ss3638583905, ss3646325025, ss3665807474, ss3732867905, ss3764136236, ss3824117213, ss3825681207, ss3829533074, ss3838241109, ss3863101160, ss3909761693, ss3984317257, ss3984317258, ss3986031639, ss3986320848, ss5174424918, ss5315089988, ss5361366006, ss5508234993, ss5624150533, ss5639002493, ss5800054547, ss5800124298, ss5835725500, ss5848635723, ss5967476136, ss5980319781	NC_000005.9:140027215:T:C	NC_000005.10:140647630:T:C	(self)
RCV000355665.5, RCV001672651.4, 38347163, 206223080, 14143119, 45425134, 518292635, 7126941408, ss2278679674, ss3025445482, ss3715819912, ss3807306458, ss3843683908, ss3957765118, ss4680915078, ss5237187281, ss5237644378, ss5266059993, ss5464004147, ss5550821228, ss5711588030, ss5806816426, ss5855041266, ss5896572791	NC_000005.10:140647630:T:C	NC_000005.10:140647630:T:C	(self)
ss910341, ss3607514, ss5601034, ss24145263, ss28461090, ss143483898, ss152536454, ss156093900, ss159102642, ss159846004, ss168871039, ss169036212	NT_029289.11:1190142:T:C	NC_000005.10:140647630:T:C	(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 rs778593

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs778593