Name: rs2220327
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.

rs2220327

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:64372566 (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=0.445366 (117884/264690, TOPMED)
C=0.431948 (60439/139922, GnomAD)
C=0.17294 (4887/28258, 14KJPN) (+ 18 more)
C=0.46257 (11887/25698, ALFA)
C=0.17160 (2876/16760, 8.3KJPN)
C=0.4088 (2618/6404, 1000G_30x)
C=0.4046 (2026/5008, 1000G)
C=0.4342 (1945/4480, Estonian)
C=0.4712 (1816/3854, ALSPAC)
C=0.4563 (1692/3708, TWINSUK)
C=0.2147 (629/2930, KOREAN)
C=0.3697 (698/1888, HapMap)
C=0.2107 (386/1832, Korea1K)
C=0.460 (459/998, GoNL)
C=0.400 (240/600, NorthernSweden)
T=0.341 (116/340, SGDP_PRJ)
C=0.398 (86/216, Qatari)
C=0.259 (56/216, Vietnamese)
C=0.40 (16/40, GENOME_DK)
T=0.39 (14/36, Siberian)
C=0.40 (12/30, Ancient Sardinia)

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	25698	T=0.53743	C=0.46257
European	Sub	17398	T=0.54661	C=0.45339
African	Sub	3624	T=0.5762	C=0.4238
African Others	Sub	126	T=0.595	C=0.405
African American	Sub	3498	T=0.5755	C=0.4245
Asian	Sub	160	T=0.681	C=0.319
East Asian	Sub	102	T=0.706	C=0.294
Other Asian	Sub	58	T=0.64	C=0.36
Latin American 1	Sub	292	T=0.558	C=0.442
Latin American 2	Sub	2768	T=0.4303	C=0.5697
South Asian	Sub	110	T=0.555	C=0.445
Other	Sub	1346	T=0.5119	C=0.4881

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=0.554634	C=0.445366
gnomAD - Genomes	Global	Study-wide	139922	T=0.568052	C=0.431948
gnomAD - Genomes	European	Sub	75804	T=0.56529	C=0.43471
gnomAD - Genomes	African	Sub	41896	T=0.58624	C=0.41376
gnomAD - Genomes	American	Sub	13624	T=0.48040	C=0.51960
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.5921	C=0.4079
gnomAD - Genomes	East Asian	Sub	3126	T=0.7540	C=0.2460
gnomAD - Genomes	Other	Sub	2150	T=0.5591	C=0.4409
14KJPN	JAPANESE	Study-wide	28258	T=0.82706	C=0.17294
Allele Frequency Aggregator	Total	Global	25698	T=0.53743	C=0.46257
Allele Frequency Aggregator	European	Sub	17398	T=0.54661	C=0.45339
Allele Frequency Aggregator	African	Sub	3624	T=0.5762	C=0.4238
Allele Frequency Aggregator	Latin American 2	Sub	2768	T=0.4303	C=0.5697
Allele Frequency Aggregator	Other	Sub	1346	T=0.5119	C=0.4881
Allele Frequency Aggregator	Latin American 1	Sub	292	T=0.558	C=0.442
Allele Frequency Aggregator	Asian	Sub	160	T=0.681	C=0.319
Allele Frequency Aggregator	South Asian	Sub	110	T=0.555	C=0.445
8.3KJPN	JAPANESE	Study-wide	16760	T=0.82840	C=0.17160
1000Genomes_30x	Global	Study-wide	6404	T=0.5912	C=0.4088
1000Genomes_30x	African	Sub	1786	T=0.5817	C=0.4183
1000Genomes_30x	Europe	Sub	1266	T=0.5458	C=0.4542
1000Genomes_30x	South Asian	Sub	1202	T=0.6281	C=0.3719
1000Genomes_30x	East Asian	Sub	1170	T=0.7359	C=0.2641
1000Genomes_30x	American	Sub	980	T=0.449	C=0.551
1000Genomes	Global	Study-wide	5008	T=0.5954	C=0.4046
1000Genomes	African	Sub	1322	T=0.5772	C=0.4228
1000Genomes	East Asian	Sub	1008	T=0.7381	C=0.2619
1000Genomes	Europe	Sub	1006	T=0.5467	C=0.4533
1000Genomes	South Asian	Sub	978	T=0.622	C=0.378
1000Genomes	American	Sub	694	T=0.457	C=0.543
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5658	C=0.4342
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5288	C=0.4712
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5437	C=0.4563
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7853	C=0.2147
HapMap	Global	Study-wide	1888	T=0.6303	C=0.3697
HapMap	American	Sub	770	T=0.581	C=0.419
HapMap	African	Sub	692	T=0.660	C=0.340
HapMap	Asian	Sub	250	T=0.772	C=0.228
HapMap	Europe	Sub	176	T=0.528	C=0.472
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7893	C=0.2107
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.540	C=0.460
Northern Sweden	ACPOP	Study-wide	600	T=0.600	C=0.400
SGDP_PRJ	Global	Study-wide	340	T=0.341	C=0.659
Qatari	Global	Study-wide	216	T=0.602	C=0.398
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.741	C=0.259
The Danish reference pan genome	Danish	Study-wide	40	T=0.60	C=0.40
Siberian	Global	Study-wide	36	T=0.39	C=0.61
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	30	T=0.60	C=0.40

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 13	NC_000013.11:g.64372566T>C
GRCh37.p13 chr 13	NC_000013.10:g.64946698T>C

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=	C
GRCh38.p14 chr 13	NC_000013.11:g.64372566=	NC_000013.11:g.64372566T>C
GRCh37.p13 chr 13	NC_000013.10:g.64946698=	NC_000013.10:g.64946698T>C

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#.

83 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3163765	Jun 15, 2001 (96)
2	BCM_SSAHASNP	ss11081358	Jul 11, 2003 (116)
3	SC_SNP	ss13334309	Dec 05, 2003 (119)
4	CSHL-HAPMAP	ss17491047	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss19270050	Feb 27, 2004 (120)
6	SSAHASNP	ss21101432	Apr 05, 2004 (121)
7	ABI	ss40326913	Mar 13, 2006 (126)
8	AFFY	ss66138198	Dec 02, 2006 (127)
9	PERLEGEN	ss69137143	May 18, 2007 (127)
10	AFFY	ss76152946	Dec 08, 2007 (130)
11	KRIBB_YJKIM	ss81728085	Dec 17, 2007 (130)
12	BCMHGSC_JDW	ss89725329	Mar 24, 2008 (129)
13	HUMANGENOME_JCVI	ss96974847	Feb 05, 2009 (130)
14	1000GENOMES	ss112857830	Jan 25, 2009 (130)
15	ENSEMBL	ss133647718	Dec 01, 2009 (131)
16	ENSEMBL	ss137197836	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss168265633	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss171295450	Jul 04, 2010 (132)
19	AFFY	ss172654053	Jul 04, 2010 (132)
20	BUSHMAN	ss199315348	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss208522449	Jul 04, 2010 (132)
22	1000GENOMES	ss211419278	Jul 14, 2010 (132)
23	1000GENOMES	ss226235966	Jul 14, 2010 (132)
24	1000GENOMES	ss236293312	Jul 15, 2010 (132)
25	1000GENOMES	ss242780587	Jul 15, 2010 (132)
26	BL	ss255086603	May 09, 2011 (134)
27	GMI	ss281753515	May 04, 2012 (137)
28	GMI	ss286724312	Apr 25, 2013 (138)
29	PJP	ss291463037	May 09, 2011 (134)
30	TISHKOFF	ss563723663	Apr 25, 2013 (138)
31	SSMP	ss659340984	Apr 25, 2013 (138)
32	EVA-GONL	ss990497268	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1079163133	Aug 21, 2014 (142)
34	1000GENOMES	ss1348601674	Aug 21, 2014 (142)
35	EVA_GENOME_DK	ss1576848364	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1630483062	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1673477095	Apr 01, 2015 (144)
38	EVA_DECODE	ss1685024513	Apr 01, 2015 (144)
39	EVA_SVP	ss1713397969	Apr 01, 2015 (144)
40	HAMMER_LAB	ss1807652160	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1933860777	Feb 12, 2016 (147)
42	GENOMED	ss1967807949	Jul 19, 2016 (147)
43	JJLAB	ss2027695122	Sep 14, 2016 (149)
44	ILLUMINA	ss2094795425	Dec 20, 2016 (150)
45	ILLUMINA	ss2095045754	Dec 20, 2016 (150)
46	USC_VALOUEV	ss2156062939	Dec 20, 2016 (150)
47	HUMAN_LONGEVITY	ss2197123190	Dec 20, 2016 (150)
48	GRF	ss2700447074	Nov 08, 2017 (151)
49	GNOMAD	ss2920753490	Nov 08, 2017 (151)
50	SWEGEN	ss3011181541	Nov 08, 2017 (151)
51	BIOINF_KMB_FNS_UNIBA	ss3027664911	Nov 08, 2017 (151)
52	CSHL	ss3350503834	Nov 08, 2017 (151)
53	URBANLAB	ss3650056953	Oct 12, 2018 (152)
54	ILLUMINA	ss3651903928	Oct 12, 2018 (152)
55	EGCUT_WGS	ss3678449041	Jul 13, 2019 (153)
56	EVA_DECODE	ss3695481971	Jul 13, 2019 (153)
57	ACPOP	ss3739832497	Jul 13, 2019 (153)
58	EVA	ss3751580713	Jul 13, 2019 (153)
59	PACBIO	ss3787487129	Jul 13, 2019 (153)
60	PACBIO	ss3792548610	Jul 13, 2019 (153)
61	PACBIO	ss3797432251	Jul 13, 2019 (153)
62	KHV_HUMAN_GENOMES	ss3816911354	Jul 13, 2019 (153)
63	EVA	ss3833597047	Apr 27, 2020 (154)
64	EVA	ss3840383602	Apr 27, 2020 (154)
65	EVA	ss3845869797	Apr 27, 2020 (154)
66	SGDP_PRJ	ss3880174391	Apr 27, 2020 (154)
67	KRGDB	ss3929057488	Apr 27, 2020 (154)
68	KOGIC	ss3973746096	Apr 27, 2020 (154)
69	EVA	ss3985644447	Apr 26, 2021 (155)
70	TOPMED	ss4949786269	Apr 26, 2021 (155)
71	TOMMO_GENOMICS	ss5210432530	Apr 26, 2021 (155)
72	1000G_HIGH_COVERAGE	ss5294064559	Oct 16, 2022 (156)
73	EVA	ss5411379745	Oct 16, 2022 (156)
74	HUGCELL_USP	ss5488391923	Oct 16, 2022 (156)
75	EVA	ss5511016265	Oct 16, 2022 (156)
76	1000G_HIGH_COVERAGE	ss5593216056	Oct 16, 2022 (156)
77	SANFORD_IMAGENETICS	ss5654963448	Oct 16, 2022 (156)
78	TOMMO_GENOMICS	ss5762431694	Oct 16, 2022 (156)
79	YY_MCH	ss5814199190	Oct 16, 2022 (156)
80	EVA	ss5839611850	Oct 16, 2022 (156)
81	EVA	ss5850770632	Oct 16, 2022 (156)
82	EVA	ss5925484184	Oct 16, 2022 (156)
83	EVA	ss5946389793	Oct 16, 2022 (156)
84	1000Genomes	NC_000013.10 - 64946698	Oct 12, 2018 (152)
85	1000Genomes_30x	NC_000013.11 - 64372566	Oct 16, 2022 (156)
86	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 64946698	Oct 12, 2018 (152)
87	Genetic variation in the Estonian population	NC_000013.10 - 64946698	Oct 12, 2018 (152)
88	The Danish reference pan genome	NC_000013.10 - 64946698	Apr 27, 2020 (154)
89	gnomAD - Genomes	NC_000013.11 - 64372566	Apr 26, 2021 (155)
90	Genome of the Netherlands Release 5	NC_000013.10 - 64946698	Apr 27, 2020 (154)
91	HapMap	NC_000013.11 - 64372566	Apr 27, 2020 (154)
92	KOREAN population from KRGDB	NC_000013.10 - 64946698	Apr 27, 2020 (154)
93	Korean Genome Project	NC_000013.11 - 64372566	Apr 27, 2020 (154)
94	Northern Sweden	NC_000013.10 - 64946698	Jul 13, 2019 (153)
95	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000013.10 - 64946698	Apr 26, 2021 (155)
96	Qatari	NC_000013.10 - 64946698	Apr 27, 2020 (154)
97	SGDP_PRJ	NC_000013.10 - 64946698	Apr 27, 2020 (154)
98	Siberian	NC_000013.10 - 64946698	Apr 27, 2020 (154)
99	8.3KJPN	NC_000013.10 - 64946698	Apr 26, 2021 (155)
100	14KJPN	NC_000013.11 - 64372566	Oct 16, 2022 (156)
101	TopMed	NC_000013.11 - 64372566	Apr 26, 2021 (155)
102	UK 10K study - Twins	NC_000013.10 - 64946698	Oct 12, 2018 (152)
103	A Vietnamese Genetic Variation Database	NC_000013.10 - 64946698	Jul 13, 2019 (153)
104	ALFA	NC_000013.11 - 64372566	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)
rs56421821	May 25, 2008 (130)
rs61719228	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss89725329, ss112857830, ss168265633, ss171295450, ss199315348, ss208522449, ss211419278, ss255086603, ss281753515, ss286724312, ss291463037, ss1685024513, ss1713397969	NC_000013.9:63844698:T:C	NC_000013.11:64372565:T:C	(self)
61488372, 34163636, 24187289, 3338405, 15247145, 36234882, 13117362, 870374, 15902707, 32191371, 8579293, 68401837, 34163636, 7583907, ss226235966, ss236293312, ss242780587, ss563723663, ss659340984, ss990497268, ss1079163133, ss1348601674, ss1576848364, ss1630483062, ss1673477095, ss1807652160, ss1933860777, ss1967807949, ss2027695122, ss2094795425, ss2095045754, ss2156062939, ss2700447074, ss2920753490, ss3011181541, ss3350503834, ss3651903928, ss3678449041, ss3739832497, ss3751580713, ss3787487129, ss3792548610, ss3797432251, ss3833597047, ss3840383602, ss3880174391, ss3929057488, ss3985644447, ss5210432530, ss5411379745, ss5511016265, ss5654963448, ss5839611850, ss5946389793	NC_000013.10:64946697:T:C	NC_000013.11:64372565:T:C	(self)
80741991, 433588657, 1012424, 30124097, 96268798, 165331927, 211293367, ss2197123190, ss3027664911, ss3650056953, ss3695481971, ss3816911354, ss3845869797, ss3973746096, ss4949786269, ss5294064559, ss5488391923, ss5593216056, ss5762431694, ss5814199190, ss5850770632, ss5925484184	NC_000013.11:64372565:T:C	NC_000013.11:64372565:T:C	(self)
ss11081358, ss13334309	NT_024524.12:33521189:T:C	NC_000013.11:64372565:T:C	(self)
ss17491047, ss19270050, ss21101432	NT_024524.13:45926698:T:C	NC_000013.11:64372565:T:C	(self)
ss3163765, ss40326913, ss66138198, ss69137143, ss76152946, ss81728085, ss96974847, ss133647718, ss137197836, ss172654053	NT_024524.14:45926697:T:C	NC_000013.11:64372565: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 rs2220327

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

rs2220327