Name: rs12968104
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.

rs12968104

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:69983545 (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: G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.268907 (71177/264690, TOPMED)
G=0.256676 (35950/140060, GnomAD)
G=0.00004 (1/28258, 14KJPN) (+ 17 more)
G=0.16048 (2972/18520, ALFA)
G=0.00006 (1/16760, 8.3KJPN)
G=0.2753 (1763/6404, 1000G_30x)
G=0.2630 (1317/5008, 1000G)
G=0.0491 (220/4480, Estonian)
G=0.0348 (134/3854, ALSPAC)
G=0.0461 (171/3708, TWINSUK)
G=0.0010 (3/2930, KOREAN)
G=0.0005 (1/1832, Korea1K)
G=0.034 (34/998, GoNL)
G=0.035 (21/600, NorthernSweden)
G=0.072 (36/500, SGDP_PRJ)
G=0.340 (110/324, HapMap)
G=0.227 (49/216, Qatari)
G=0.005 (1/214, Vietnamese)
G=0.00 (0/56, Siberian)
G=0.03 (1/40, GENOME_DK)

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	18520	G=0.16048	C=0.83952
European	Sub	14152	G=0.04162	C=0.95838
African	Sub	2898	G=0.7453	C=0.2547
African Others	Sub	114	G=0.868	C=0.132
African American	Sub	2784	G=0.7403	C=0.2597
Asian	Sub	112	G=0.000	C=1.000
East Asian	Sub	86	G=0.00	C=1.00
Other Asian	Sub	26	G=0.00	C=1.00
Latin American 1	Sub	146	G=0.212	C=0.788
Latin American 2	Sub	610	G=0.084	C=0.916
South Asian	Sub	98	G=0.08	C=0.92
Other	Sub	504	G=0.264	C=0.736

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	G=0.268907	C=0.731093
gnomAD - Genomes	Global	Study-wide	140060	G=0.256676	C=0.743324
gnomAD - Genomes	European	Sub	75908	G=0.04105	C=0.95895
gnomAD - Genomes	African	Sub	41910	G=0.73469	C=0.26531
gnomAD - Genomes	American	Sub	13648	G=0.10441	C=0.89559
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.0443	C=0.9557
gnomAD - Genomes	East Asian	Sub	3130	G=0.0006	C=0.9994
gnomAD - Genomes	Other	Sub	2144	G=0.2188	C=0.7812
14KJPN	JAPANESE	Study-wide	28258	G=0.00004	C=0.99996
Allele Frequency Aggregator	Total	Global	18520	G=0.16048	C=0.83952
Allele Frequency Aggregator	European	Sub	14152	G=0.04162	C=0.95838
Allele Frequency Aggregator	African	Sub	2898	G=0.7453	C=0.2547
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.084	C=0.916
Allele Frequency Aggregator	Other	Sub	504	G=0.264	C=0.736
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.212	C=0.788
Allele Frequency Aggregator	Asian	Sub	112	G=0.000	C=1.000
Allele Frequency Aggregator	South Asian	Sub	98	G=0.08	C=0.92
8.3KJPN	JAPANESE	Study-wide	16760	G=0.00006	C=0.99994
1000Genomes_30x	Global	Study-wide	6404	G=0.2753	C=0.7247
1000Genomes_30x	African	Sub	1786	G=0.8645	C=0.1355
1000Genomes_30x	Europe	Sub	1266	G=0.0419	C=0.9581
1000Genomes_30x	South Asian	Sub	1202	G=0.0607	C=0.9393
1000Genomes_30x	East Asian	Sub	1170	G=0.0034	C=0.9966
1000Genomes_30x	American	Sub	980	G=0.091	C=0.909
1000Genomes	Global	Study-wide	5008	G=0.2630	C=0.7370
1000Genomes	African	Sub	1322	G=0.8631	C=0.1369
1000Genomes	East Asian	Sub	1008	G=0.0040	C=0.9960
1000Genomes	Europe	Sub	1006	G=0.0398	C=0.9602
1000Genomes	South Asian	Sub	978	G=0.070	C=0.930
1000Genomes	American	Sub	694	G=0.092	C=0.908
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.0491	C=0.9509
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.0348	C=0.9652
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.0461	C=0.9539
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.0010	C=0.9990, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	G=0.0005	C=0.9995
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.034	C=0.966
Northern Sweden	ACPOP	Study-wide	600	G=0.035	C=0.965
SGDP_PRJ	Global	Study-wide	500	G=0.072	C=0.928
HapMap	Global	Study-wide	324	G=0.340	C=0.660
HapMap	American	Sub	120	G=0.033	C=0.967
HapMap	African	Sub	114	G=0.930	C=0.070
HapMap	Asian	Sub	90	G=0.00	C=1.00
Qatari	Global	Study-wide	216	G=0.227	C=0.773
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.005	C=0.995
Siberian	Global	Study-wide	56	G=0.00	C=1.00
The Danish reference pan genome	Danish	Study-wide	40	G=0.03	C=0.97

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 18	NC_000018.10:g.69983545G>C
GRCh38.p14 chr 18	NC_000018.10:g.69983545G>T
GRCh37.p13 chr 18	NC_000018.9:g.67650781G>C
GRCh37.p13 chr 18	NC_000018.9:g.67650781G>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	G=	C	T
GRCh38.p14 chr 18	NC_000018.10:g.69983545=	NC_000018.10:g.69983545G>C	NC_000018.10:g.69983545G>T
GRCh37.p13 chr 18	NC_000018.9:g.67650781=	NC_000018.9:g.67650781G>C	NC_000018.9:g.67650781G>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#.

68 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss21493849	Apr 05, 2004 (121)
2	BCMHGSC_JDW	ss90843503	Mar 24, 2008 (129)
3	HUMANGENOME_JCVI	ss96352625	Feb 05, 2009 (130)
4	BGI	ss106556024	Feb 05, 2009 (130)
5	1000GENOMES	ss110796900	Jan 25, 2009 (130)
6	ENSEMBL	ss133871965	Dec 01, 2009 (131)
7	ENSEMBL	ss137459121	Dec 01, 2009 (131)
8	GMI	ss155371742	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss168464324	Jul 04, 2010 (132)
10	COMPLETE_GENOMICS	ss171956531	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss208099203	Jul 04, 2010 (132)
12	1000GENOMES	ss227950966	Jul 14, 2010 (132)
13	1000GENOMES	ss237533513	Jul 15, 2010 (132)
14	1000GENOMES	ss243769277	Jul 15, 2010 (132)
15	BL	ss255772648	May 09, 2011 (134)
16	GMI	ss283054390	May 04, 2012 (137)
17	GMI	ss287313655	Apr 25, 2013 (138)
18	PJP	ss292101316	May 09, 2011 (134)
19	TISHKOFF	ss565744085	Apr 25, 2013 (138)
20	SSMP	ss661584677	Apr 25, 2013 (138)
21	EVA-GONL	ss993903121	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1081632298	Aug 21, 2014 (142)
23	1000GENOMES	ss1361671883	Aug 21, 2014 (142)
24	DDI	ss1428274177	Apr 01, 2015 (144)
25	EVA_GENOME_DK	ss1578477210	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1637226600	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1680220633	Apr 01, 2015 (144)
28	EVA_DECODE	ss1697966590	Apr 01, 2015 (144)
29	WEILL_CORNELL_DGM	ss1937371307	Feb 12, 2016 (147)
30	GENOMED	ss1968566571	Jul 19, 2016 (147)
31	JJLAB	ss2029459782	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2157967099	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2222911065	Dec 20, 2016 (150)
34	SYSTEMSBIOZJU	ss2629228664	Nov 08, 2017 (151)
35	GRF	ss2702562984	Nov 08, 2017 (151)
36	GNOMAD	ss2958496937	Nov 08, 2017 (151)
37	SWEGEN	ss3016790882	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3028560213	Nov 08, 2017 (151)
39	CSHL	ss3352102753	Nov 08, 2017 (151)
40	URBANLAB	ss3650827350	Oct 12, 2018 (152)
41	EGCUT_WGS	ss3683643311	Jul 13, 2019 (153)
42	EVA_DECODE	ss3701982229	Jul 13, 2019 (153)
43	ACPOP	ss3742692032	Jul 13, 2019 (153)
44	EVA	ss3755593520	Jul 13, 2019 (153)
45	PACBIO	ss3788417515	Jul 13, 2019 (153)
46	PACBIO	ss3793342649	Jul 13, 2019 (153)
47	PACBIO	ss3798229080	Jul 13, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3820850561	Jul 13, 2019 (153)
49	EVA	ss3835255623	Apr 27, 2020 (154)
50	EVA	ss3841247941	Apr 27, 2020 (154)
51	EVA	ss3846750951	Apr 27, 2020 (154)
52	SGDP_PRJ	ss3887359744	Apr 27, 2020 (154)
53	KRGDB	ss3937259618	Apr 27, 2020 (154)
54	KOGIC	ss3980455605	Apr 27, 2020 (154)
55	TOPMED	ss5062362517	Apr 27, 2021 (155)
56	TOMMO_GENOMICS	ss5225892337	Apr 27, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5305858673	Oct 16, 2022 (156)
58	EVA	ss5432458704	Oct 16, 2022 (156)
59	HUGCELL_USP	ss5498575862	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5610993561	Oct 16, 2022 (156)
61	SANFORD_IMAGENETICS	ss5661622352	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5783889133	Oct 16, 2022 (156)
63	YY_MCH	ss5817242736	Oct 16, 2022 (156)
64	EVA	ss5827771806	Oct 16, 2022 (156)
65	EVA	ss5852127818	Oct 16, 2022 (156)
66	EVA	ss5874739181	Oct 16, 2022 (156)
67	EVA	ss5953053184	Oct 16, 2022 (156)
68	EVA	ss5981015582	Oct 16, 2022 (156)
69	1000Genomes	NC_000018.9 - 67650781	Oct 12, 2018 (152)
70	1000Genomes_30x	NC_000018.10 - 69983545	Oct 16, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 67650781	Oct 12, 2018 (152)
72	Genetic variation in the Estonian population	NC_000018.9 - 67650781	Oct 12, 2018 (152)
73	The Danish reference pan genome	NC_000018.9 - 67650781	Apr 27, 2020 (154)
74	gnomAD - Genomes	NC_000018.10 - 69983545	Apr 27, 2021 (155)
75	Genome of the Netherlands Release 5	NC_000018.9 - 67650781	Apr 27, 2020 (154)
76	HapMap	NC_000018.10 - 69983545	Apr 27, 2020 (154)
77	KOREAN population from KRGDB	NC_000018.9 - 67650781	Apr 27, 2020 (154)
78	Korean Genome Project	NC_000018.10 - 69983545	Apr 27, 2020 (154)
79	Northern Sweden	NC_000018.9 - 67650781	Jul 13, 2019 (153)
80	Qatari	NC_000018.9 - 67650781	Apr 27, 2020 (154)
81	SGDP_PRJ	NC_000018.9 - 67650781	Apr 27, 2020 (154)
82	Siberian	NC_000018.9 - 67650781	Apr 27, 2020 (154)
83	8.3KJPN	NC_000018.9 - 67650781	Apr 27, 2021 (155)
84	14KJPN	NC_000018.10 - 69983545	Oct 16, 2022 (156)
85	TopMed	NC_000018.10 - 69983545	Apr 27, 2021 (155)
86	UK 10K study - Twins	NC_000018.9 - 67650781	Oct 12, 2018 (152)
87	A Vietnamese Genetic Variation Database	NC_000018.9 - 67650781	Jul 13, 2019 (153)
88	ALFA	NC_000018.10 - 69983545	Apr 27, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss90843503, ss110796900, ss168464324, ss171956531, ss208099203, ss255772648, ss283054390, ss287313655, ss292101316, ss1697966590	NC_000018.8:65801760:G:C	NC_000018.10:69983544:G:C	(self)
75024767, 41585362, 29381559, 4666198, 18526826, 44437012, 15976897, 19413229, 39376724, 10483453, 83861644, 41585362, 9192121, ss227950966, ss237533513, ss243769277, ss565744085, ss661584677, ss993903121, ss1081632298, ss1361671883, ss1428274177, ss1578477210, ss1637226600, ss1680220633, ss1937371307, ss1968566571, ss2029459782, ss2157967099, ss2629228664, ss2702562984, ss2958496937, ss3016790882, ss3352102753, ss3683643311, ss3742692032, ss3755593520, ss3788417515, ss3793342649, ss3798229080, ss3835255623, ss3841247941, ss3887359744, ss3937259618, ss5225892337, ss5432458704, ss5661622352, ss5827771806, ss5953053184, ss5981015582	NC_000018.9:67650780:G:C	NC_000018.10:69983544:G:C	(self)
98519496, 529182724, 1638618, 36833606, 117726237, 277908180, 11486626193, ss2222911065, ss3028560213, ss3650827350, ss3701982229, ss3820850561, ss3846750951, ss3980455605, ss5062362517, ss5305858673, ss5498575862, ss5610993561, ss5783889133, ss5817242736, ss5852127818, ss5874739181	NC_000018.10:69983544:G:C	NC_000018.10:69983544:G:C	(self)
ss21493849	NT_025028.13:15441626:G:C	NC_000018.10:69983544:G:C	(self)
ss96352625, ss106556024, ss133871965, ss137459121, ss155371742	NT_025028.14:15441644:G:C	NC_000018.10:69983544:G:C	(self)
44437012, ss3937259618	NC_000018.9:67650780:G:T	NC_000018.10:69983544:G: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 rs12968104

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

rs12968104