Name: rs630408
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.

rs630408

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:122688275 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.237674 (62910/264690, TOPMED)
T=0.228754 (32047/140094, GnomAD)
C=0.44893 (12686/28258, 14KJPN) (+ 15 more)
T=0.20672 (3905/18890, ALFA)
C=0.44523 (7462/16760, 8.3KJPN)
T=0.2509 (1607/6404, 1000G_30x)
T=0.2492 (1248/5008, 1000G)
T=0.1799 (806/4480, Estonian)
T=0.1871 (721/3854, ALSPAC)
T=0.1688 (626/3708, TWINSUK)
C=0.4468 (1309/2930, KOREAN)
T=0.172 (172/998, GoNL)
T=0.152 (91/600, NorthernSweden)
C=0.394 (89/226, SGDP_PRJ)
T=0.218 (47/216, Qatari)
T=0.467 (98/210, Vietnamese)
T=0.17 (7/40, GENOME_DK)
C=0.45 (9/20, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	18890	C=0.79328	T=0.20672
European	Sub	14286	C=0.81618	T=0.18382
African	Sub	2946	C=0.6881	T=0.3119
African Others	Sub	114	C=0.772	T=0.228
African American	Sub	2832	C=0.6847	T=0.3153
Asian	Sub	112	C=0.545	T=0.455
East Asian	Sub	86	C=0.52	T=0.48
Other Asian	Sub	26	C=0.62	T=0.38
Latin American 1	Sub	146	C=0.767	T=0.233
Latin American 2	Sub	610	C=0.836	T=0.164
South Asian	Sub	98	C=0.93	T=0.07
Other	Sub	692	C=0.757	T=0.243

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=0.762326	T=0.237674
gnomAD - Genomes	Global	Study-wide	140094	C=0.771246	T=0.228754
gnomAD - Genomes	European	Sub	75898	C=0.81617	T=0.18383
gnomAD - Genomes	African	Sub	41966	C=0.69237	T=0.30763
gnomAD - Genomes	American	Sub	13638	C=0.80870	T=0.19130
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.8388	T=0.1612
gnomAD - Genomes	East Asian	Sub	3120	C=0.4974	T=0.5026
gnomAD - Genomes	Other	Sub	2154	C=0.7804	T=0.2196
14KJPN	JAPANESE	Study-wide	28258	C=0.44893	T=0.55107
Allele Frequency Aggregator	Total	Global	18890	C=0.79328	T=0.20672
Allele Frequency Aggregator	European	Sub	14286	C=0.81618	T=0.18382
Allele Frequency Aggregator	African	Sub	2946	C=0.6881	T=0.3119
Allele Frequency Aggregator	Other	Sub	692	C=0.757	T=0.243
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.836	T=0.164
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.767	T=0.233
Allele Frequency Aggregator	Asian	Sub	112	C=0.545	T=0.455
Allele Frequency Aggregator	South Asian	Sub	98	C=0.93	T=0.07
8.3KJPN	JAPANESE	Study-wide	16760	C=0.44523	T=0.55477
1000Genomes_30x	Global	Study-wide	6404	C=0.7491	T=0.2509
1000Genomes_30x	African	Sub	1786	C=0.6758	T=0.3242
1000Genomes_30x	Europe	Sub	1266	C=0.8191	T=0.1809
1000Genomes_30x	South Asian	Sub	1202	C=0.9334	T=0.0666
1000Genomes_30x	East Asian	Sub	1170	C=0.5453	T=0.4547
1000Genomes_30x	American	Sub	980	C=0.809	T=0.191
1000Genomes	Global	Study-wide	5008	C=0.7508	T=0.2492
1000Genomes	African	Sub	1322	C=0.6853	T=0.3147
1000Genomes	East Asian	Sub	1008	C=0.5397	T=0.4603
1000Genomes	Europe	Sub	1006	C=0.8241	T=0.1759
1000Genomes	South Asian	Sub	978	C=0.939	T=0.061
1000Genomes	American	Sub	694	C=0.811	T=0.189
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8201	T=0.1799
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8129	T=0.1871
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8312	T=0.1688
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.4468	G=0.0000, T=0.5532
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.828	T=0.172
Northern Sweden	ACPOP	Study-wide	600	C=0.848	T=0.152
SGDP_PRJ	Global	Study-wide	226	C=0.394	T=0.606
Qatari	Global	Study-wide	216	C=0.782	T=0.218
A Vietnamese Genetic Variation Database	Global	Study-wide	210	C=0.533	T=0.467
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	20	C=0.45	T=0.55

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 12	NC_000012.12:g.122688275C>G
GRCh38.p14 chr 12	NC_000012.12:g.122688275C>T
GRCh37.p13 chr 12	NC_000012.11:g.123172822C>G
GRCh37.p13 chr 12	NC_000012.11:g.123172822C>T

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=	G	T
GRCh38.p14 chr 12	NC_000012.12:g.122688275=	NC_000012.12:g.122688275C>G	NC_000012.12:g.122688275C>T
GRCh37.p13 chr 12	NC_000012.11:g.123172822=	NC_000012.11:g.123172822C>G	NC_000012.11:g.123172822C>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, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss802972	Aug 11, 2000 (83)
2	SC_JCM	ss2665795	Nov 09, 2000 (92)
3	SC_JCM	ss3440731	Sep 28, 2001 (100)
4	SC_JCM	ss3735260	Sep 28, 2001 (100)
5	SC_JCM	ss4140670	Nov 05, 2001 (101)
6	HGSV	ss82768034	Dec 15, 2007 (130)
7	HUMANGENOME_JCVI	ss97346917	Feb 06, 2009 (130)
8	BGI	ss103089046	Dec 01, 2009 (131)
9	ILLUMINA-UK	ss119755837	Dec 01, 2009 (131)
10	ENSEMBL	ss133881345	Dec 01, 2009 (131)
11	GMI	ss157987968	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss168753902	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss171020500	Jul 04, 2010 (132)
14	BCM-HGSC-SUB	ss208421582	Jul 04, 2010 (132)
15	1000GENOMES	ss226002681	Jul 14, 2010 (132)
16	1000GENOMES	ss236118278	Jul 15, 2010 (132)
17	1000GENOMES	ss242640668	Jul 15, 2010 (132)
18	GMI	ss281578321	May 04, 2012 (137)
19	PJP	ss291356133	May 09, 2011 (134)
20	TISHKOFF	ss563456919	Apr 25, 2013 (138)
21	SSMP	ss659042519	Apr 25, 2013 (138)
22	EVA-GONL	ss990044752	Aug 21, 2014 (142)
23	JMKIDD_LAB	ss1078832676	Aug 21, 2014 (142)
24	1000GENOMES	ss1346969117	Aug 21, 2014 (142)
25	EVA_GENOME_DK	ss1576575374	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1629621283	Apr 01, 2015 (144)
27	EVA_DECODE	ss1642154716	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1672615316	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1807456919	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1933399936	Feb 12, 2016 (147)
31	JJLAB	ss2027455605	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2155812043	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2193881778	Dec 20, 2016 (150)
34	SYSTEMSBIOZJU	ss2628211132	Nov 08, 2017 (151)
35	GRF	ss2700172305	Nov 08, 2017 (151)
36	GNOMAD	ss2916126047	Nov 08, 2017 (151)
37	SWEGEN	ss3010486666	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3027538486	Nov 08, 2017 (151)
39	CSHL	ss3350287679	Nov 08, 2017 (151)
40	URBANLAB	ss3649938526	Oct 12, 2018 (152)
41	EGCUT_WGS	ss3677786918	Jul 13, 2019 (153)
42	EVA_DECODE	ss3694637838	Jul 13, 2019 (153)
43	ACPOP	ss3739455135	Jul 13, 2019 (153)
44	EVA	ss3751067472	Jul 13, 2019 (153)
45	KHV_HUMAN_GENOMES	ss3816395602	Jul 13, 2019 (153)
46	EVA	ss3833369515	Apr 27, 2020 (154)
47	SGDP_PRJ	ss3879285576	Apr 27, 2020 (154)
48	KRGDB	ss3928061997	Apr 27, 2020 (154)
49	TOPMED	ss4935615085	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5208559552	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5292531520	Oct 16, 2022 (156)
52	EVA	ss5408764315	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5487105379	Oct 16, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5590893264	Oct 16, 2022 (156)
55	SANFORD_IMAGENETICS	ss5654119595	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5759006867	Oct 16, 2022 (156)
57	YY_MCH	ss5813718468	Oct 16, 2022 (156)
58	EVA	ss5838628947	Oct 16, 2022 (156)
59	EVA	ss5850583617	Oct 16, 2022 (156)
60	EVA	ss5906358539	Oct 16, 2022 (156)
61	EVA	ss5945533737	Oct 16, 2022 (156)
62	1000Genomes	NC_000012.11 - 123172822	Oct 12, 2018 (152)
63	1000Genomes_30x	NC_000012.12 - 122688275	Oct 16, 2022 (156)
64	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 123172822	Oct 12, 2018 (152)
65	Genetic variation in the Estonian population	NC_000012.11 - 123172822	Oct 12, 2018 (152)
66	The Danish reference pan genome	NC_000012.11 - 123172822	Apr 27, 2020 (154)
67	gnomAD - Genomes	NC_000012.12 - 122688275	Apr 26, 2021 (155)
68	Genome of the Netherlands Release 5	NC_000012.11 - 123172822	Apr 27, 2020 (154)
69	KOREAN population from KRGDB	NC_000012.11 - 123172822	Apr 27, 2020 (154)
70	Northern Sweden	NC_000012.11 - 123172822	Jul 13, 2019 (153)
71	Qatari	NC_000012.11 - 123172822	Apr 27, 2020 (154)
72	SGDP_PRJ	NC_000012.11 - 123172822	Apr 27, 2020 (154)
73	Siberian	NC_000012.11 - 123172822	Apr 27, 2020 (154)
74	8.3KJPN	NC_000012.11 - 123172822	Apr 26, 2021 (155)
75	14KJPN	NC_000012.12 - 122688275	Oct 16, 2022 (156)
76	TopMed	NC_000012.12 - 122688275	Apr 26, 2021 (155)
77	UK 10K study - Twins	NC_000012.11 - 123172822	Oct 12, 2018 (152)
78	A Vietnamese Genetic Variation Database	NC_000012.11 - 123172822	Jul 13, 2019 (153)
79	ALFA	NC_000012.12 - 122688275	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)
rs1798179	Jan 18, 2001 (92)
rs60718053	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
35239391, ss3928061997	NC_000012.11:123172821:C:G	NC_000012.12:122688274:C:G	(self)
ss82768034	NC_000012.9:121697701:C:T	NC_000012.12:122688274:C:T	(self)
ss119755837, ss168753902, ss171020500, ss208421582, ss281578321, ss291356133, ss1642154716	NC_000012.10:121738774:C:T	NC_000012.12:122688274:C:T	(self)
59792536, 33211112, 23525166, 3159759, 14810034, 35239391, 12740000, 15441866, 31302556, 8328397, 66528859, 33211112, 7365849, ss226002681, ss236118278, ss242640668, ss563456919, ss659042519, ss990044752, ss1078832676, ss1346969117, ss1576575374, ss1629621283, ss1672615316, ss1807456919, ss1933399936, ss2027455605, ss2155812043, ss2628211132, ss2700172305, ss2916126047, ss3010486666, ss3350287679, ss3677786918, ss3739455135, ss3751067472, ss3833369515, ss3879285576, ss3928061997, ss5208559552, ss5408764315, ss5654119595, ss5838628947, ss5945533737	NC_000012.11:123172821:C:T	NC_000012.12:122688274:C:T	(self)
78419199, 421766163, 92843971, 151160742, 4830716300, ss2193881778, ss3027538486, ss3649938526, ss3694637838, ss3816395602, ss4935615085, ss5292531520, ss5487105379, ss5590893264, ss5759006867, ss5813718468, ss5850583617, ss5906358539	NC_000012.12:122688274:C:T	NC_000012.12:122688274:C:T	(self)
ss802972, ss2665795, ss3440731, ss3735260, ss4140670, ss97346917, ss103089046, ss133881345, ss157987968	NT_009755.19:592198:C:T	NC_000012.12:122688274: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 rs630408

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

rs630408