Name: rs12831974
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.

rs12831974

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:72330254 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.125402 (40829/325586, ALFA)
C=0.156390 (41395/264690, TOPMED)
C=0.145596 (20269/139214, GnomAD) (+ 22 more)
C=0.20992 (16520/78698, PAGE_STUDY)
C=0.44801 (12660/28258, 14KJPN)
C=0.44212 (7410/16760, 8.3KJPN)
C=0.2235 (1431/6404, 1000G_30x)
C=0.2224 (1114/5008, 1000G)
C=0.1185 (531/4480, Estonian)
C=0.1004 (387/3854, ALSPAC)
C=0.1068 (396/3708, TWINSUK)
C=0.4321 (1266/2930, KOREAN)
C=0.2257 (470/2082, HGDP_Stanford)
C=0.2246 (425/1892, HapMap)
C=0.4438 (813/1832, Korea1K)
C=0.1355 (152/1122, Daghestan)
C=0.105 (105/998, GoNL)
C=0.462 (366/792, PRJEB37584)
C=0.098 (59/600, NorthernSweden)
C=0.181 (39/216, Qatari)
T=0.422 (87/206, SGDP_PRJ)
C=0.06 (4/68, Ancient Sardinia)
C=0.12 (5/40, GENOME_DK)
T=0.50 (11/22, Siberian)
C=0.50 (11/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TRHDE : 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	325802	T=0.874611	A=0.000000, C=0.125389, G=0.000000
European	Sub	279646	T=0.888216	A=0.000000, C=0.111784, G=0.000000
African	Sub	10228	T=0.86058	A=0.00000, C=0.13942, G=0.00000
African Others	Sub	370	T=0.865	A=0.000, C=0.135, G=0.000
African American	Sub	9858	T=0.8604	A=0.0000, C=0.1396, G=0.0000
Asian	Sub	6800	T=0.5419	A=0.0000, C=0.4581, G=0.0000
East Asian	Sub	4880	T=0.5332	A=0.0000, C=0.4668, G=0.0000
Other Asian	Sub	1920	T=0.5641	A=0.0000, C=0.4359, G=0.0000
Latin American 1	Sub	1098	T=0.8734	A=0.0000, C=0.1266, G=0.0000
Latin American 2	Sub	7026	T=0.8214	A=0.0000, C=0.1786, G=0.0000
South Asian	Sub	5214	T=0.8855	A=0.0000, C=0.1145, G=0.0000
Other	Sub	15790	T=0.80621	A=0.00000, C=0.19379, G=0.00000

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	325586	T=0.874598	A=0.000000, C=0.125402, G=0.000000
Allele Frequency Aggregator	European	Sub	279466	T=0.888205	A=0.000000, C=0.111795, G=0.000000
Allele Frequency Aggregator	Other	Sub	15768	T=0.80619	A=0.00000, C=0.19381, G=0.00000
Allele Frequency Aggregator	African	Sub	10214	T=0.86058	A=0.00000, C=0.13942, G=0.00000
Allele Frequency Aggregator	Latin American 2	Sub	7026	T=0.8214	A=0.0000, C=0.1786, G=0.0000
Allele Frequency Aggregator	Asian	Sub	6800	T=0.5419	A=0.0000, C=0.4581, G=0.0000
Allele Frequency Aggregator	South Asian	Sub	5214	T=0.8855	A=0.0000, C=0.1145, G=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1098	T=0.8734	A=0.0000, C=0.1266, G=0.0000
TopMed	Global	Study-wide	264690	T=0.843610	C=0.156390
gnomAD - Genomes	Global	Study-wide	139214	T=0.854404	C=0.145596
gnomAD - Genomes	European	Sub	75534	T=0.88624	C=0.11376
gnomAD - Genomes	African	Sub	41548	T=0.82789	C=0.17211
gnomAD - Genomes	American	Sub	13558	T=0.84024	C=0.15976
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.8481	C=0.1519
gnomAD - Genomes	East Asian	Sub	3116	T=0.5144	C=0.4856
gnomAD - Genomes	Other	Sub	2140	T=0.8402	C=0.1598
The PAGE Study	Global	Study-wide	78698	T=0.79008	C=0.20992
The PAGE Study	AfricanAmerican	Sub	32514	T=0.82438	C=0.17562
The PAGE Study	Mexican	Sub	10810	T=0.81166	C=0.18834
The PAGE Study	Asian	Sub	8318	T=0.5454	C=0.4546
The PAGE Study	PuertoRican	Sub	7918	T=0.8607	C=0.1393
The PAGE Study	NativeHawaiian	Sub	4534	T=0.6211	C=0.3789
The PAGE Study	Cuban	Sub	4228	T=0.8642	C=0.1358
The PAGE Study	Dominican	Sub	3828	T=0.8545	C=0.1455
The PAGE Study	CentralAmerican	Sub	2450	T=0.8388	C=0.1612
The PAGE Study	SouthAmerican	Sub	1982	T=0.8274	C=0.1726
The PAGE Study	NativeAmerican	Sub	1260	T=0.8452	C=0.1548
The PAGE Study	SouthAsian	Sub	856	T=0.873	C=0.127
14KJPN	JAPANESE	Study-wide	28258	T=0.55199	C=0.44801
8.3KJPN	JAPANESE	Study-wide	16760	T=0.55788	C=0.44212
1000Genomes_30x	Global	Study-wide	6404	T=0.7765	C=0.2235
1000Genomes_30x	African	Sub	1786	T=0.7884	C=0.2116
1000Genomes_30x	Europe	Sub	1266	T=0.8657	C=0.1343
1000Genomes_30x	South Asian	Sub	1202	T=0.8943	C=0.1057
1000Genomes_30x	East Asian	Sub	1170	T=0.5051	C=0.4949
1000Genomes_30x	American	Sub	980	T=0.819	C=0.181
1000Genomes	Global	Study-wide	5008	T=0.7776	C=0.2224
1000Genomes	African	Sub	1322	T=0.8041	C=0.1959
1000Genomes	East Asian	Sub	1008	T=0.5119	C=0.4881
1000Genomes	Europe	Sub	1006	T=0.8658	C=0.1342
1000Genomes	South Asian	Sub	978	T=0.897	C=0.103
1000Genomes	American	Sub	694	T=0.817	C=0.183
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8815	C=0.1185
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8996	C=0.1004
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8932	C=0.1068
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.5679	C=0.4321
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	T=0.7743	C=0.2257
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	T=0.573	C=0.427
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.848	C=0.152
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.809	C=0.191
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.866	C=0.134
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.806	C=0.194
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.843	C=0.157
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.78	C=0.22
HapMap	Global	Study-wide	1892	T=0.7754	C=0.2246
HapMap	American	Sub	770	T=0.805	C=0.195
HapMap	African	Sub	692	T=0.822	C=0.178
HapMap	Asian	Sub	254	T=0.524	C=0.476
HapMap	Europe	Sub	176	T=0.824	C=0.176
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5562	C=0.4438
Genome-wide autozygosity in Daghestan	Global	Study-wide	1122	T=0.8645	C=0.1355
Genome-wide autozygosity in Daghestan	Daghestan	Sub	618	T=0.890	C=0.110
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.840	C=0.160
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.811	C=0.189
Genome-wide autozygosity in Daghestan	Europe	Sub	106	T=0.811	C=0.189
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	T=0.88	C=0.12
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.83	C=0.17
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.895	C=0.105
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.538	C=0.462
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.538	C=0.462
Northern Sweden	ACPOP	Study-wide	600	T=0.902	C=0.098
Qatari	Global	Study-wide	216	T=0.819	C=0.181
SGDP_PRJ	Global	Study-wide	206	T=0.422	C=0.578
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	68	T=0.94	C=0.06
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
Siberian	Global	Study-wide	22	T=0.50	C=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 12	NC_000012.12:g.72330254T>A
GRCh38.p14 chr 12	NC_000012.12:g.72330254T>C
GRCh38.p14 chr 12	NC_000012.12:g.72330254T>G
GRCh37.p13 chr 12	NC_000012.11:g.72724034T>A
GRCh37.p13 chr 12	NC_000012.11:g.72724034T>C
GRCh37.p13 chr 12	NC_000012.11:g.72724034T>G
TRHDE RefSeqGene	NG_046971.1:g.62675T>A
TRHDE RefSeqGene	NG_046971.1:g.62675T>C
TRHDE RefSeqGene	NG_046971.1:g.62675T>G

Gene: TRHDE, thyrotropin releasing hormone degrading enzyme (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TRHDE transcript	NM_013381.3:c.1188+43300T… NM_013381.3:c.1188+43300T>A	N/A	Intron Variant
TRHDE transcript variant X2	XM_005268819.6:c.1188+433… XM_005268819.6:c.1188+43300T>A	N/A	Intron Variant
TRHDE transcript variant X1	XM_017019243.3:c.1188+433… XM_017019243.3:c.1188+43300T>A	N/A	Intron Variant
TRHDE transcript variant X3	XM_017019244.2:c.144+4330… XM_017019244.2:c.144+43300T>A	N/A	Intron Variant
TRHDE transcript variant X4	XM_011538248.3:c.	N/A	Genic 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.

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=	A	C	G
GRCh38.p14 chr 12	NC_000012.12:g.72330254=	NC_000012.12:g.72330254T>A	NC_000012.12:g.72330254T>C	NC_000012.12:g.72330254T>G
GRCh37.p13 chr 12	NC_000012.11:g.72724034=	NC_000012.11:g.72724034T>A	NC_000012.11:g.72724034T>C	NC_000012.11:g.72724034T>G
TRHDE RefSeqGene	NG_046971.1:g.62675=	NG_046971.1:g.62675T>A	NG_046971.1:g.62675T>C	NG_046971.1:g.62675T>G
TRHDE transcript	NM_013381.2:c.1053+43300=	NM_013381.2:c.1053+43300T>A	NM_013381.2:c.1053+43300T>C	NM_013381.2:c.1053+43300T>G
TRHDE transcript	NM_013381.3:c.1188+43300=	NM_013381.3:c.1188+43300T>A	NM_013381.3:c.1188+43300T>C	NM_013381.3:c.1188+43300T>G
TRHDE transcript variant X1	XM_005268819.1:c.1188+43300=	XM_005268819.1:c.1188+43300T>A	XM_005268819.1:c.1188+43300T>C	XM_005268819.1:c.1188+43300T>G
TRHDE transcript variant X2	XM_005268819.6:c.1188+43300=	XM_005268819.6:c.1188+43300T>A	XM_005268819.6:c.1188+43300T>C	XM_005268819.6:c.1188+43300T>G
TRHDE transcript variant X1	XM_017019243.3:c.1188+43300=	XM_017019243.3:c.1188+43300T>A	XM_017019243.3:c.1188+43300T>C	XM_017019243.3:c.1188+43300T>G
TRHDE transcript variant X3	XM_017019244.2:c.144+43300=	XM_017019244.2:c.144+43300T>A	XM_017019244.2:c.144+43300T>C	XM_017019244.2:c.144+43300T>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#.

141 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss20975284	Apr 05, 2004 (121)
2	PERLEGEN	ss23963936	Sep 20, 2004 (123)
3	ABI	ss40093417	Mar 15, 2006 (126)
4	ILLUMINA	ss67041793	Dec 01, 2006 (127)
5	ILLUMINA	ss67366564	Dec 01, 2006 (127)
6	ILLUMINA	ss68139714	Dec 12, 2006 (127)
7	PERLEGEN	ss69113046	May 17, 2007 (127)
8	ILLUMINA	ss70586093	May 24, 2008 (130)
9	ILLUMINA	ss71129036	May 17, 2007 (127)
10	ILLUMINA	ss75589849	Dec 07, 2007 (129)
11	KRIBB_YJKIM	ss85276677	Dec 15, 2007 (130)
12	HUMANGENOME_JCVI	ss97320444	Feb 05, 2009 (130)
13	BGI	ss103059522	Feb 23, 2009 (135)
14	ILLUMINA-UK	ss118902859	Feb 14, 2009 (130)
15	ENSEMBL	ss144155825	Dec 01, 2009 (131)
16	ILLUMINA	ss153285809	Dec 01, 2009 (131)
17	GMI	ss157630564	Dec 01, 2009 (131)
18	ILLUMINA	ss159236137	Dec 01, 2009 (131)
19	ILLUMINA	ss160302007	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss168498157	Jul 04, 2010 (132)
21	ILLUMINA	ss172253660	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss175181698	Jul 04, 2010 (132)
23	1000GENOMES	ss211303296	Jul 14, 2010 (132)
24	1000GENOMES	ss225825409	Jul 14, 2010 (132)
25	1000GENOMES	ss235987228	Jul 15, 2010 (132)
26	1000GENOMES	ss242536727	Jul 15, 2010 (132)
27	BL	ss255218945	May 09, 2011 (134)
28	GMI	ss281451538	May 04, 2012 (137)
29	PJP	ss291279987	May 09, 2011 (134)
30	ILLUMINA	ss479827413	May 04, 2012 (137)
31	ILLUMINA	ss479834579	May 04, 2012 (137)
32	ILLUMINA	ss480424857	Sep 08, 2015 (146)
33	ILLUMINA	ss484712149	May 04, 2012 (137)
34	EXOME_CHIP	ss491471093	May 04, 2012 (137)
35	ILLUMINA	ss536815918	Sep 08, 2015 (146)
36	TISHKOFF	ss563248792	Apr 25, 2013 (138)
37	SSMP	ss658814888	Apr 25, 2013 (138)
38	ILLUMINA	ss778790957	Aug 21, 2014 (142)
39	ILLUMINA	ss780681628	Aug 21, 2014 (142)
40	ILLUMINA	ss782802834	Aug 21, 2014 (142)
41	ILLUMINA	ss783354955	Aug 21, 2014 (142)
42	ILLUMINA	ss783768283	Aug 21, 2014 (142)
43	ILLUMINA	ss832055852	Apr 01, 2015 (144)
44	ILLUMINA	ss832748465	Aug 21, 2014 (142)
45	ILLUMINA	ss833339295	Aug 21, 2014 (142)
46	ILLUMINA	ss834251002	Aug 21, 2014 (142)
47	EVA-GONL	ss989680668	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss1078567508	Aug 21, 2014 (142)
49	1000GENOMES	ss1345583012	Aug 21, 2014 (142)
50	HAMMER_LAB	ss1397637784	Sep 08, 2015 (146)
51	DDI	ss1426976819	Apr 01, 2015 (144)
52	EVA_GENOME_DK	ss1576367269	Apr 01, 2015 (144)
53	EVA_DECODE	ss1599360186	Apr 01, 2015 (144)
54	EVA_UK10K_ALSPAC	ss1628886170	Apr 01, 2015 (144)
55	EVA_UK10K_TWINSUK	ss1671880203	Apr 01, 2015 (144)
56	EVA_SVP	ss1713338521	Apr 01, 2015 (144)
57	ILLUMINA	ss1752080504	Sep 08, 2015 (146)
58	ILLUMINA	ss1752080505	Sep 08, 2015 (146)
59	ILLUMINA	ss1917876481	Feb 12, 2016 (147)
60	WEILL_CORNELL_DGM	ss1933043760	Feb 12, 2016 (147)
61	ILLUMINA	ss1946343643	Feb 12, 2016 (147)
62	ILLUMINA	ss1959447215	Feb 12, 2016 (147)
63	GENOMED	ss1967621745	Jul 19, 2016 (147)
64	JJLAB	ss2027273038	Sep 14, 2016 (149)
65	ILLUMINA	ss2094793785	Dec 20, 2016 (150)
66	ILLUMINA	ss2095037676	Dec 20, 2016 (150)
67	USC_VALOUEV	ss2155616399	Dec 20, 2016 (150)
68	HUMAN_LONGEVITY	ss2190956515	Dec 20, 2016 (150)
69	SYSTEMSBIOZJU	ss2628119177	Nov 08, 2017 (151)
70	ILLUMINA	ss2632977057	Nov 08, 2017 (151)
71	ILLUMINA	ss2632977058	Nov 08, 2017 (151)
72	ILLUMINA	ss2632977059	Nov 08, 2017 (151)
73	GRF	ss2699966569	Nov 08, 2017 (151)
74	GNOMAD	ss2912148683	Nov 08, 2017 (151)
75	AFFY	ss2984984614	Nov 08, 2017 (151)
76	SWEGEN	ss3009922476	Nov 08, 2017 (151)
77	ILLUMINA	ss3021444376	Nov 08, 2017 (151)
78	BIOINF_KMB_FNS_UNIBA	ss3027446353	Nov 08, 2017 (151)
79	CSHL	ss3350129282	Nov 08, 2017 (151)
80	ILLUMINA	ss3626910956	Oct 12, 2018 (152)
81	ILLUMINA	ss3626910957	Oct 12, 2018 (152)
82	ILLUMINA	ss3630985239	Oct 12, 2018 (152)
83	ILLUMINA	ss3633025469	Oct 12, 2018 (152)
84	ILLUMINA	ss3633726662	Oct 12, 2018 (152)
85	ILLUMINA	ss3634512394	Oct 12, 2018 (152)
86	ILLUMINA	ss3634512395	Oct 12, 2018 (152)
87	ILLUMINA	ss3635417307	Oct 12, 2018 (152)
88	ILLUMINA	ss3636197651	Oct 12, 2018 (152)
89	ILLUMINA	ss3637168304	Oct 12, 2018 (152)
90	ILLUMINA	ss3637972048	Oct 12, 2018 (152)
91	ILLUMINA	ss3638999198	Oct 12, 2018 (152)
92	ILLUMINA	ss3639810075	Oct 12, 2018 (152)
93	ILLUMINA	ss3640219727	Oct 12, 2018 (152)
94	ILLUMINA	ss3640219728	Oct 12, 2018 (152)
95	ILLUMINA	ss3642964839	Oct 12, 2018 (152)
96	ILLUMINA	ss3643861534	Oct 12, 2018 (152)
97	ILLUMINA	ss3644596629	Oct 12, 2018 (152)
98	URBANLAB	ss3649868419	Oct 12, 2018 (152)
99	ILLUMINA	ss3651825103	Oct 12, 2018 (152)
100	ILLUMINA	ss3651825104	Oct 12, 2018 (152)
101	ILLUMINA	ss3653754014	Oct 12, 2018 (152)
102	EGCUT_WGS	ss3677194917	Jul 13, 2019 (153)
103	EVA_DECODE	ss3693948726	Jul 13, 2019 (153)
104	ILLUMINA	ss3725337352	Jul 13, 2019 (153)
105	ACPOP	ss3739145666	Jul 13, 2019 (153)
106	ILLUMINA	ss3744398566	Jul 13, 2019 (153)
107	ILLUMINA	ss3744813105	Jul 13, 2019 (153)
108	ILLUMINA	ss3744813106	Jul 13, 2019 (153)
109	EVA	ss3750649591	Jul 13, 2019 (153)
110	PAGE_CC	ss3771701282	Jul 13, 2019 (153)
111	ILLUMINA	ss3772312467	Jul 13, 2019 (153)
112	ILLUMINA	ss3772312468	Jul 13, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3815983609	Jul 13, 2019 (153)
114	EVA	ss3833194567	Apr 27, 2020 (154)
115	HGDP	ss3847455508	Apr 27, 2020 (154)
116	SGDP_PRJ	ss3878569608	Apr 27, 2020 (154)
117	KRGDB	ss3927242846	Apr 27, 2020 (154)
118	KOGIC	ss3972217983	Apr 27, 2020 (154)
119	EVA	ss3984669250	Apr 26, 2021 (155)
120	EVA	ss3985599330	Apr 26, 2021 (155)
121	TOPMED	ss4923340679	Apr 26, 2021 (155)
122	TOMMO_GENOMICS	ss5206971548	Apr 26, 2021 (155)
123	EVA	ss5237513956	Apr 26, 2021 (155)
124	1000G_HIGH_COVERAGE	ss5291309627	Oct 16, 2022 (156)
125	EVA	ss5315630939	Oct 16, 2022 (156)
126	EVA	ss5406541514	Oct 16, 2022 (156)
127	HUGCELL_USP	ss5486004793	Oct 16, 2022 (156)
128	EVA	ss5510752718	Oct 16, 2022 (156)
129	1000G_HIGH_COVERAGE	ss5589049396	Oct 16, 2022 (156)
130	SANFORD_IMAGENETICS	ss5624305290	Oct 16, 2022 (156)
131	SANFORD_IMAGENETICS	ss5653434786	Oct 16, 2022 (156)
132	TOMMO_GENOMICS	ss5756953530	Oct 16, 2022 (156)
133	EVA	ss5799876429	Oct 16, 2022 (156)
134	YY_MCH	ss5813420693	Oct 16, 2022 (156)
135	EVA	ss5838157589	Oct 16, 2022 (156)
136	EVA	ss5847411444	Oct 16, 2022 (156)
137	EVA	ss5847675505	Oct 16, 2022 (156)
138	EVA	ss5850439003	Oct 16, 2022 (156)
139	EVA	ss5904958344	Oct 16, 2022 (156)
140	EVA	ss5944808977	Oct 16, 2022 (156)
141	EVA	ss5979395865	Oct 16, 2022 (156)
142	1000Genomes	NC_000012.11 - 72724034	Oct 12, 2018 (152)
143	1000Genomes_30x	NC_000012.12 - 72330254	Oct 16, 2022 (156)
144	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 72724034	Oct 12, 2018 (152)
145	Genome-wide autozygosity in Daghestan	NC_000012.10 - 71010301	Apr 27, 2020 (154)
146	Genetic variation in the Estonian population	NC_000012.11 - 72724034	Oct 12, 2018 (152)
147	The Danish reference pan genome	NC_000012.11 - 72724034	Apr 27, 2020 (154)
148	gnomAD - Genomes	NC_000012.12 - 72330254	Apr 26, 2021 (155)
149	Genome of the Netherlands Release 5	NC_000012.11 - 72724034	Apr 27, 2020 (154)
150	HGDP-CEPH-db Supplement 1	NC_000012.10 - 71010301	Apr 27, 2020 (154)
151	HapMap	NC_000012.12 - 72330254	Apr 27, 2020 (154)
152	KOREAN population from KRGDB	NC_000012.11 - 72724034	Apr 27, 2020 (154)
153	Korean Genome Project	NC_000012.12 - 72330254	Apr 27, 2020 (154)
154	Northern Sweden	NC_000012.11 - 72724034	Jul 13, 2019 (153)
155	The PAGE Study	NC_000012.12 - 72330254	Jul 13, 2019 (153)
156	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 72724034	Apr 26, 2021 (155)
157	CNV burdens in cranial meningiomas	NC_000012.11 - 72724034	Apr 26, 2021 (155)
158	Qatari	NC_000012.11 - 72724034	Apr 27, 2020 (154)
159	SGDP_PRJ	NC_000012.11 - 72724034	Apr 27, 2020 (154)
160	Siberian	NC_000012.11 - 72724034	Apr 27, 2020 (154)
161	8.3KJPN	NC_000012.11 - 72724034	Apr 26, 2021 (155)
162	14KJPN	NC_000012.12 - 72330254	Oct 16, 2022 (156)
163	TopMed	NC_000012.12 - 72330254	Apr 26, 2021 (155)
164	UK 10K study - Twins	NC_000012.11 - 72724034	Oct 12, 2018 (152)
165	ALFA	NC_000012.12 - 72330254	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)
rs58851208	May 24, 2008 (130)
rs74236534	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
10861015472	NC_000012.12:72330253:T:A	NC_000012.12:72330253:T:A	(self)
ss3638999198, ss3639810075, ss3643861534	NC_000012.9:71010300:T:C	NC_000012.12:72330253:T:C	(self)
108638, 133400, ss118902859, ss160302007, ss168498157, ss175181698, ss211303296, ss255218945, ss281451538, ss291279987, ss479827413, ss1397637784, ss1599360186, ss1713338521, ss3642964839, ss3847455508	NC_000012.10:71010300:T:C	NC_000012.12:72330253:T:C	(self)
58353290, 32400648, 22933165, 3020203, 14455994, 34420240, 12430531, 825257, 218743, 15085690, 30586588, 8132753, 64940855, 32400648, ss225825409, ss235987228, ss242536727, ss479834579, ss480424857, ss484712149, ss491471093, ss536815918, ss563248792, ss658814888, ss778790957, ss780681628, ss782802834, ss783354955, ss783768283, ss832055852, ss832748465, ss833339295, ss834251002, ss989680668, ss1078567508, ss1345583012, ss1426976819, ss1576367269, ss1628886170, ss1671880203, ss1752080504, ss1752080505, ss1917876481, ss1933043760, ss1946343643, ss1959447215, ss1967621745, ss2027273038, ss2094793785, ss2095037676, ss2155616399, ss2628119177, ss2632977057, ss2632977058, ss2632977059, ss2699966569, ss2912148683, ss2984984614, ss3009922476, ss3021444376, ss3350129282, ss3626910956, ss3626910957, ss3630985239, ss3633025469, ss3633726662, ss3634512394, ss3634512395, ss3635417307, ss3636197651, ss3637168304, ss3637972048, ss3640219727, ss3640219728, ss3644596629, ss3651825103, ss3651825104, ss3653754014, ss3677194917, ss3739145666, ss3744398566, ss3744813105, ss3744813106, ss3750649591, ss3772312467, ss3772312468, ss3833194567, ss3878569608, ss3927242846, ss3984669250, ss3985599330, ss5206971548, ss5237513956, ss5315630939, ss5406541514, ss5510752718, ss5624305290, ss5653434786, ss5799876429, ss5838157589, ss5847411444, ss5847675505, ss5944808977, ss5979395865	NC_000012.11:72724033:T:C	NC_000012.12:72330253:T:C	(self)
76575331, 411525002, 847790, 28595984, 922751, 90790634, 138886336, 10861015472, ss2190956515, ss3027446353, ss3649868419, ss3693948726, ss3725337352, ss3771701282, ss3815983609, ss3972217983, ss4923340679, ss5291309627, ss5486004793, ss5589049396, ss5756953530, ss5813420693, ss5850439003, ss5904958344	NC_000012.12:72330253:T:C	NC_000012.12:72330253:T:C	(self)
ss20975284	NT_029419.10:34867339:T:C	NC_000012.12:72330253:T:C	(self)
ss23963936, ss40093417, ss67041793, ss67366564, ss68139714, ss69113046, ss70586093, ss71129036, ss75589849, ss85276677, ss97320444, ss103059522, ss144155825, ss153285809, ss157630564, ss159236137, ss172253660	NT_029419.12:34867339:T:C	NC_000012.12:72330253:T:C	(self)
10861015472	NC_000012.12:72330253:T:G	NC_000012.12:72330253: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 rs12831974

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

rs12831974