Name: rs2127350
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.

rs2127350

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:60741079 (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>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.332816 (88093/264690, TOPMED)
T=0.27504 (11103/40368, ALFA)
T=0.30466 (8609/28258, 14KJPN) (+ 17 more)
T=0.30179 (5058/16760, 8.3KJPN)
T=0.3426 (2194/6404, 1000G_30x)
T=0.3411 (1708/5008, 1000G)
T=0.3326 (1490/4480, Estonian)
T=0.3036 (1170/3854, ALSPAC)
T=0.3153 (1169/3708, TWINSUK)
T=0.3747 (1098/2930, KOREAN)
T=0.3755 (688/1832, Korea1K)
T=0.328 (327/998, GoNL)
T=0.328 (197/600, NorthernSweden)
T=0.326 (107/328, HapMap)
G=0.416 (129/310, SGDP_PRJ)
T=0.356 (77/216, Qatari)
G=0.463 (100/216, Vietnamese)
T=0.26 (22/86, Ancient Sardinia)
T=0.42 (17/40, GENOME_DK)
G=0.27 (6/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ANK3-DT : 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	40368	G=0.72496	A=0.00000, T=0.27504
European	Sub	28586	G=0.73382	A=0.00000, T=0.26618
African	Sub	3240	G=0.7651	A=0.0000, T=0.2349
African Others	Sub	118	G=0.788	A=0.000, T=0.212
African American	Sub	3122	G=0.7643	A=0.0000, T=0.2357
Asian	Sub	360	G=0.608	A=0.000, T=0.392
East Asian	Sub	312	G=0.625	A=0.000, T=0.375
Other Asian	Sub	48	G=0.50	A=0.00, T=0.50
Latin American 1	Sub	500	G=0.728	A=0.000, T=0.272
Latin American 2	Sub	4566	G=0.6579	A=0.0000, T=0.3421
South Asian	Sub	130	G=0.900	A=0.000, T=0.100
Other	Sub	2986	G=0.7050	A=0.0000, T=0.2950

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=0.667184	T=0.332816
Allele Frequency Aggregator	Total	Global	40368	G=0.72496	A=0.00000, T=0.27504
Allele Frequency Aggregator	European	Sub	28586	G=0.73382	A=0.00000, T=0.26618
Allele Frequency Aggregator	Latin American 2	Sub	4566	G=0.6579	A=0.0000, T=0.3421
Allele Frequency Aggregator	African	Sub	3240	G=0.7651	A=0.0000, T=0.2349
Allele Frequency Aggregator	Other	Sub	2986	G=0.7050	A=0.0000, T=0.2950
Allele Frequency Aggregator	Latin American 1	Sub	500	G=0.728	A=0.000, T=0.272
Allele Frequency Aggregator	Asian	Sub	360	G=0.608	A=0.000, T=0.392
Allele Frequency Aggregator	South Asian	Sub	130	G=0.900	A=0.000, T=0.100
14KJPN	JAPANESE	Study-wide	28258	G=0.69534	T=0.30466
8.3KJPN	JAPANESE	Study-wide	16760	G=0.69821	T=0.30179
1000Genomes_30x	Global	Study-wide	6404	G=0.6574	T=0.3426
1000Genomes_30x	African	Sub	1786	G=0.6097	T=0.3903
1000Genomes_30x	Europe	Sub	1266	G=0.7022	T=0.2978
1000Genomes_30x	South Asian	Sub	1202	G=0.7937	T=0.2063
1000Genomes_30x	East Asian	Sub	1170	G=0.5308	T=0.4692
1000Genomes_30x	American	Sub	980	G=0.670	T=0.330
1000Genomes	Global	Study-wide	5008	G=0.6589	T=0.3411
1000Genomes	African	Sub	1322	G=0.6044	T=0.3956
1000Genomes	East Asian	Sub	1008	G=0.5327	T=0.4673
1000Genomes	Europe	Sub	1006	G=0.7087	T=0.2913
1000Genomes	South Asian	Sub	978	G=0.797	T=0.203
1000Genomes	American	Sub	694	G=0.680	T=0.320
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.6674	T=0.3326
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6964	T=0.3036
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6847	T=0.3153
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.6253	T=0.3747
Korean Genome Project	KOREAN	Study-wide	1832	G=0.6245	T=0.3755
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.672	T=0.328
Northern Sweden	ACPOP	Study-wide	600	G=0.672	T=0.328
HapMap	Global	Study-wide	328	G=0.674	T=0.326
HapMap	African	Sub	120	G=0.600	T=0.400
HapMap	American	Sub	120	G=0.708	T=0.292
HapMap	Asian	Sub	88	G=0.73	T=0.27
SGDP_PRJ	Global	Study-wide	310	G=0.416	T=0.584
Qatari	Global	Study-wide	216	G=0.644	T=0.356
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.463	T=0.537
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	86	G=0.74	T=0.26
The Danish reference pan genome	Danish	Study-wide	40	G=0.57	T=0.42
Siberian	Global	Study-wide	22	G=0.27	T=0.73

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 10	NC_000010.11:g.60741079G>A
GRCh38.p14 chr 10	NC_000010.11:g.60741079G>T
GRCh37.p13 chr 10	NC_000010.10:g.62500837G>A
GRCh37.p13 chr 10	NC_000010.10:g.62500837G>T

Gene: ANK3-DT, uncharacterized ANK3-DT (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANK3-DT transcript variant X1	XR_001747686.2:n.	N/A	Intron Variant
ANK3-DT transcript variant X2	XR_001747687.2:n.	N/A	Intron 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	G=	A	T
GRCh38.p14 chr 10	NC_000010.11:g.60741079=	NC_000010.11:g.60741079G>A	NC_000010.11:g.60741079G>T
GRCh37.p13 chr 10	NC_000010.10:g.62500837=	NC_000010.10:g.62500837G>A	NC_000010.10:g.62500837G>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#.

72 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3050860	Jun 15, 2001 (96)
2	SC_SNP	ss12953978	Dec 05, 2003 (119)
3	SC_SNP	ss16048432	Feb 27, 2004 (120)
4	PERLEGEN	ss24059127	Sep 20, 2004 (123)
5	HGSV	ss78430308	Dec 07, 2007 (129)
6	HGSV	ss84101769	Dec 15, 2007 (130)
7	1000GENOMES	ss109490806	Jan 24, 2009 (130)
8	ILLUMINA-UK	ss119190058	Feb 15, 2009 (130)
9	GMI	ss155112073	Dec 01, 2009 (131)
10	ILLUMINA	ss160504844	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss168447258	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss170175253	Jul 04, 2010 (132)
13	BCM-HGSC-SUB	ss207038315	Jul 04, 2010 (132)
14	1000GENOMES	ss210986872	Jul 14, 2010 (132)
15	1000GENOMES	ss224758230	Jul 14, 2010 (132)
16	1000GENOMES	ss235199254	Jul 15, 2010 (132)
17	1000GENOMES	ss241900502	Jul 15, 2010 (132)
18	GMI	ss280640382	May 04, 2012 (137)
19	PJP	ss290850630	May 09, 2011 (134)
20	ILLUMINA	ss481233978	Sep 08, 2015 (146)
21	TISHKOFF	ss561992895	Apr 25, 2013 (138)
22	SSMP	ss656817625	Apr 25, 2013 (138)
23	EVA-GONL	ss987549636	Aug 21, 2014 (142)
24	JMKIDD_LAB	ss1077032140	Aug 21, 2014 (142)
25	1000GENOMES	ss1337666963	Aug 21, 2014 (142)
26	DDI	ss1426339516	Apr 01, 2015 (144)
27	EVA_GENOME_DK	ss1575154114	Apr 01, 2015 (144)
28	EVA_DECODE	ss1597216088	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1624686432	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1667680465	Apr 01, 2015 (144)
31	HAMMER_LAB	ss1806415901	Sep 08, 2015 (146)
32	WEILL_CORNELL_DGM	ss1930913552	Feb 12, 2016 (147)
33	GENOMED	ss1967142914	Jul 19, 2016 (147)
34	JJLAB	ss2026180023	Sep 14, 2016 (149)
35	USC_VALOUEV	ss2154453173	Dec 20, 2016 (150)
36	HUMAN_LONGEVITY	ss2175215935	Dec 20, 2016 (150)
37	GRF	ss2698697288	Nov 08, 2017 (151)
38	GNOMAD	ss2889428153	Nov 08, 2017 (151)
39	SWEGEN	ss3006572580	Nov 08, 2017 (151)
40	BIOINF_KMB_FNS_UNIBA	ss3026881157	Nov 08, 2017 (151)
41	CSHL	ss3349150232	Nov 08, 2017 (151)
42	ILLUMINA	ss3636089614	Oct 12, 2018 (152)
43	EGCUT_WGS	ss3673985051	Jul 13, 2019 (153)
44	EVA_DECODE	ss3689992315	Jul 13, 2019 (153)
45	ACPOP	ss3737372911	Jul 13, 2019 (153)
46	EVA	ss3748171597	Jul 13, 2019 (153)
47	PACBIO	ss3786688966	Jul 13, 2019 (153)
48	PACBIO	ss3791867472	Jul 13, 2019 (153)
49	PACBIO	ss3796749490	Jul 13, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3813547270	Jul 13, 2019 (153)
51	EVA	ss3832155494	Apr 26, 2020 (154)
52	EVA	ss3839617224	Apr 26, 2020 (154)
53	EVA	ss3845089462	Apr 26, 2020 (154)
54	SGDP_PRJ	ss3874329292	Apr 26, 2020 (154)
55	KRGDB	ss3922399256	Apr 26, 2020 (154)
56	KOGIC	ss3967992011	Apr 26, 2020 (154)
57	EVA	ss3985478155	Apr 27, 2021 (155)
58	TOPMED	ss4854398332	Apr 27, 2021 (155)
59	TOMMO_GENOMICS	ss5197890539	Apr 27, 2021 (155)
60	1000G_HIGH_COVERAGE	ss5284248308	Oct 16, 2022 (156)
61	EVA	ss5393822314	Oct 16, 2022 (156)
62	HUGCELL_USP	ss5479805150	Oct 16, 2022 (156)
63	EVA	ss5510040061	Oct 16, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5578298420	Oct 16, 2022 (156)
65	SANFORD_IMAGENETICS	ss5649402562	Oct 16, 2022 (156)
66	TOMMO_GENOMICS	ss5743794647	Oct 16, 2022 (156)
67	YY_MCH	ss5811582685	Oct 16, 2022 (156)
68	EVA	ss5824475141	Oct 16, 2022 (156)
69	EVA	ss5849591060	Oct 16, 2022 (156)
70	EVA	ss5879130966	Oct 16, 2022 (156)
71	EVA	ss5940672882	Oct 16, 2022 (156)
72	EVA	ss5980617897	Oct 16, 2022 (156)
73	1000Genomes	NC_000010.10 - 62500837	Oct 12, 2018 (152)
74	1000Genomes_30x	NC_000010.11 - 60741079	Oct 16, 2022 (156)
75	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 62500837	Oct 12, 2018 (152)
76	Genetic variation in the Estonian population	NC_000010.10 - 62500837	Oct 12, 2018 (152)
77	The Danish reference pan genome	NC_000010.10 - 62500837	Apr 26, 2020 (154)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 353865902 (NC_000010.11:60741078:G:A 2/139756) Row 353865903 (NC_000010.11:60741078:G:T 46098/139680)	-	Apr 27, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 353865902 (NC_000010.11:60741078:G:A 2/139756) Row 353865903 (NC_000010.11:60741078:G:T 46098/139680)	-	Apr 27, 2021 (155)
80	Genome of the Netherlands Release 5	NC_000010.10 - 62500837	Apr 26, 2020 (154)
81	HapMap	NC_000010.11 - 60741079	Apr 26, 2020 (154)
82	KOREAN population from KRGDB	NC_000010.10 - 62500837	Apr 26, 2020 (154)
83	Korean Genome Project	NC_000010.11 - 60741079	Apr 26, 2020 (154)
84	Northern Sweden	NC_000010.10 - 62500837	Jul 13, 2019 (153)
85	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 62500837	Apr 27, 2021 (155)
86	Qatari	NC_000010.10 - 62500837	Apr 26, 2020 (154)
87	SGDP_PRJ	NC_000010.10 - 62500837	Apr 26, 2020 (154)
88	Siberian	NC_000010.10 - 62500837	Apr 26, 2020 (154)
89	8.3KJPN	NC_000010.10 - 62500837	Apr 27, 2021 (155)
90	14KJPN	NC_000010.11 - 60741079	Oct 16, 2022 (156)
91	TopMed	NC_000010.11 - 60741079	Apr 27, 2021 (155)
92	UK 10K study - Twins	NC_000010.10 - 62500837	Oct 12, 2018 (152)
93	A Vietnamese Genetic Variation Database	NC_000010.10 - 62500837	Jul 13, 2019 (153)
94	ALFA	NC_000010.11 - 60741079	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).

Associated ID	History Updated (Build)
rs59413915	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
14255380709	NC_000010.11:60741078:G:A	NC_000010.11:60741078:G:A	(self)
ss78430308, ss84101769	NC_000010.8:62170842:G:T	NC_000010.11:60741078:G:T	(self)
ss109490806, ss119190058, ss168447258, ss170175253, ss207038315, ss210986872, ss280640382, ss290850630, ss1597216088	NC_000010.9:62170842:G:T	NC_000010.11:60741078:G:T	(self)
50063291, 27785678, 19723299, 2181558, 12392051, 29576650, 10657776, 704082, 12955482, 26346272, 6969527, 55859846, 27785678, 6171096, ss224758230, ss235199254, ss241900502, ss481233978, ss561992895, ss656817625, ss987549636, ss1077032140, ss1337666963, ss1426339516, ss1575154114, ss1624686432, ss1667680465, ss1806415901, ss1930913552, ss1967142914, ss2026180023, ss2154453173, ss2698697288, ss2889428153, ss3006572580, ss3349150232, ss3636089614, ss3673985051, ss3737372911, ss3748171597, ss3786688966, ss3791867472, ss3796749490, ss3832155494, ss3839617224, ss3874329292, ss3922399256, ss3985478155, ss5197890539, ss5393822314, ss5510040061, ss5649402562, ss5824475141, ss5940672882, ss5980617897	NC_000010.10:62500836:G:T	NC_000010.11:60741078:G:T	(self)
65824355, 415647, 24370012, 77631751, 69943987, 14255380709, ss2175215935, ss3026881157, ss3689992315, ss3813547270, ss3845089462, ss3967992011, ss4854398332, ss5284248308, ss5479805150, ss5578298420, ss5743794647, ss5811582685, ss5849591060, ss5879130966	NC_000010.11:60741078:G:T	NC_000010.11:60741078:G:T	(self)
ss12953978	NT_008583.15:11051984:G:T	NC_000010.11:60741078:G:T	(self)
ss16048432	NT_008583.16:11051991:G:T	NC_000010.11:60741078:G:T	(self)
ss3050860, ss24059127, ss155112073, ss160504844	NT_030059.13:13305300:G:T	NC_000010.11:60741078: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 rs2127350

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

rs2127350