Name: rs2608200
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.

rs2608200

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:20110968 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.204575 (54149/264690, TOPMED)
A=0.208279 (29167/140038, GnomAD)
A=0.28449 (8039/28258, 14KJPN) (+ 19 more)
A=0.22903 (6018/26276, ALFA)
A=0.28311 (4745/16760, 8.3KJPN)
A=0.1886 (1208/6404, 1000G_30x)
A=0.1937 (970/5008, 1000G)
A=0.2801 (1255/4480, Estonian)
A=0.2590 (998/3854, ALSPAC)
A=0.2567 (952/3708, TWINSUK)
A=0.2775 (813/2930, KOREAN)
A=0.1794 (339/1890, HapMap)
A=0.2713 (497/1832, Korea1K)
A=0.234 (234/998, GoNL)
A=0.206 (163/792, PRJEB37584)
A=0.323 (194/600, NorthernSweden)
A=0.184 (97/526, SGDP_PRJ)
A=0.111 (24/216, Qatari)
A=0.382 (81/212, Vietnamese)
A=0.27 (20/74, Ancient Sardinia)
A=0.23 (12/52, Siberian)
A=0.25 (10/40, 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	26276	A=0.22903	G=0.77097
European	Sub	17398	A=0.25394	G=0.74606
African	Sub	4048	A=0.1117	G=0.8883
African Others	Sub	126	A=0.111	G=0.889
African American	Sub	3922	A=0.1117	G=0.8883
Asian	Sub	160	A=0.319	G=0.681
East Asian	Sub	102	A=0.324	G=0.676
Other Asian	Sub	58	A=0.31	G=0.69
Latin American 1	Sub	292	A=0.205	G=0.795
Latin American 2	Sub	2770	A=0.2379	G=0.7621
South Asian	Sub	110	A=0.209	G=0.791
Other	Sub	1498	A=0.2370	G=0.7630

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	A=0.204575	G=0.795425
gnomAD - Genomes	Global	Study-wide	140038	A=0.208279	G=0.791721
gnomAD - Genomes	European	Sub	75826	A=0.25388	G=0.74612
gnomAD - Genomes	African	Sub	41978	A=0.11678	G=0.88322
gnomAD - Genomes	American	Sub	13636	A=0.23621	G=0.76379
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.1547	G=0.8453
gnomAD - Genomes	East Asian	Sub	3126	A=0.2601	G=0.7399
gnomAD - Genomes	Other	Sub	2150	A=0.2167	G=0.7833
14KJPN	JAPANESE	Study-wide	28258	A=0.28449	G=0.71551
Allele Frequency Aggregator	Total	Global	26276	A=0.22903	G=0.77097
Allele Frequency Aggregator	European	Sub	17398	A=0.25394	G=0.74606
Allele Frequency Aggregator	African	Sub	4048	A=0.1117	G=0.8883
Allele Frequency Aggregator	Latin American 2	Sub	2770	A=0.2379	G=0.7621
Allele Frequency Aggregator	Other	Sub	1498	A=0.2370	G=0.7630
Allele Frequency Aggregator	Latin American 1	Sub	292	A=0.205	G=0.795
Allele Frequency Aggregator	Asian	Sub	160	A=0.319	G=0.681
Allele Frequency Aggregator	South Asian	Sub	110	A=0.209	G=0.791
8.3KJPN	JAPANESE	Study-wide	16760	A=0.28311	G=0.71689
1000Genomes_30x	Global	Study-wide	6404	A=0.1886	G=0.8114
1000Genomes_30x	African	Sub	1786	A=0.0694	G=0.9306
1000Genomes_30x	Europe	Sub	1266	A=0.2378	G=0.7622
1000Genomes_30x	South Asian	Sub	1202	A=0.1913	G=0.8087
1000Genomes_30x	East Asian	Sub	1170	A=0.2769	G=0.7231
1000Genomes_30x	American	Sub	980	A=0.234	G=0.766
1000Genomes	Global	Study-wide	5008	A=0.1937	G=0.8063
1000Genomes	African	Sub	1322	A=0.0764	G=0.9236
1000Genomes	East Asian	Sub	1008	A=0.2778	G=0.7222
1000Genomes	Europe	Sub	1006	A=0.2396	G=0.7604
1000Genomes	South Asian	Sub	978	A=0.190	G=0.810
1000Genomes	American	Sub	694	A=0.233	G=0.767
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.2801	G=0.7199
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.2590	G=0.7410
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.2567	G=0.7433
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.2775	G=0.7225
HapMap	Global	Study-wide	1890	A=0.1794	G=0.8206
HapMap	American	Sub	770	A=0.208	G=0.792
HapMap	African	Sub	690	A=0.106	G=0.894
HapMap	Asian	Sub	254	A=0.299	G=0.701
HapMap	Europe	Sub	176	A=0.170	G=0.830
Korean Genome Project	KOREAN	Study-wide	1832	A=0.2713	G=0.7287
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.234	G=0.766
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.206	G=0.794
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.206	G=0.794
Northern Sweden	ACPOP	Study-wide	600	A=0.323	G=0.677
SGDP_PRJ	Global	Study-wide	526	A=0.184	G=0.816
Qatari	Global	Study-wide	216	A=0.111	G=0.889
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.382	G=0.618
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	A=0.27	G=0.73
Siberian	Global	Study-wide	52	A=0.23	G=0.77
The Danish reference pan genome	Danish	Study-wide	40	A=0.25	G=0.75

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 16	NC_000016.10:g.20110968A>G
GRCh37.p13 chr 16	NC_000016.9:g.20122290A>G

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	A=	G
GRCh38.p14 chr 16	NC_000016.10:g.20110968=	NC_000016.10:g.20110968A>G
GRCh37.p13 chr 16	NC_000016.9:g.20122290=	NC_000016.9:g.20122290A>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#.

91 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3670635	Sep 28, 2001 (100)
2	BCM_SSAHASNP	ss10812924	Jul 11, 2003 (116)
3	BCM_SSAHASNP	ss14261286	Dec 05, 2003 (119)
4	CSHL-HAPMAP	ss17560026	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss20019935	Feb 27, 2004 (120)
6	PERLEGEN	ss24389538	Sep 20, 2004 (123)
7	ABI	ss43895527	Mar 15, 2006 (126)
8	AFFY	ss66278065	Dec 03, 2006 (127)
9	PERLEGEN	ss69341103	May 16, 2007 (127)
10	AFFY	ss75932149	Dec 06, 2007 (129)
11	HGSV	ss77175009	Dec 06, 2007 (129)
12	HGSV	ss78074403	Dec 06, 2007 (129)
13	KRIBB_YJKIM	ss81828604	Dec 15, 2007 (130)
14	BCMHGSC_JDW	ss90343539	Mar 24, 2008 (129)
15	BGI	ss103284734	Dec 01, 2009 (131)
16	1000GENOMES	ss109252884	Jan 23, 2009 (130)
17	1000GENOMES	ss114942892	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss118215734	Feb 14, 2009 (130)
19	ENSEMBL	ss136625488	Dec 01, 2009 (131)
20	GMI	ss157178473	Dec 01, 2009 (131)
21	ENSEMBL	ss161763026	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss167989606	Jul 04, 2010 (132)
23	AFFY	ss169302177	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss169381692	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss171077166	Jul 04, 2010 (132)
26	BUSHMAN	ss201532506	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss207529253	Jul 04, 2010 (132)
28	1000GENOMES	ss227182617	Jul 14, 2010 (132)
29	1000GENOMES	ss236981416	Jul 15, 2010 (132)
30	1000GENOMES	ss243330097	Jul 15, 2010 (132)
31	BL	ss255571922	May 09, 2011 (134)
32	GMI	ss282467448	May 04, 2012 (137)
33	GMI	ss287047640	Apr 25, 2013 (138)
34	PJP	ss291932976	May 09, 2011 (134)
35	TISHKOFF	ss564830133	Apr 25, 2013 (138)
36	SSMP	ss660578196	Apr 25, 2013 (138)
37	EVA-GONL	ss992362073	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1080542534	Aug 21, 2014 (142)
39	1000GENOMES	ss1355692928	Aug 21, 2014 (142)
40	DDI	ss1427802259	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1577868366	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1634165118	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1677159151	Apr 01, 2015 (144)
44	EVA_DECODE	ss1696396076	Apr 01, 2015 (144)
45	EVA_SVP	ss1713531247	Apr 01, 2015 (144)
46	HAMMER_LAB	ss1808457779	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1935783713	Feb 12, 2016 (147)
48	GENOMED	ss1968237179	Jul 19, 2016 (147)
49	JJLAB	ss2028678919	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2157089410	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2211196115	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2628832449	Nov 08, 2017 (151)
53	GRF	ss2701592474	Nov 08, 2017 (151)
54	GNOMAD	ss2941234052	Nov 08, 2017 (151)
55	AFFY	ss2985701522	Nov 08, 2017 (151)
56	SWEGEN	ss3014206108	Nov 08, 2017 (151)
57	ILLUMINA	ss3021691552	Nov 08, 2017 (151)
58	BIOINF_KMB_FNS_UNIBA	ss3028163818	Nov 08, 2017 (151)
59	CSHL	ss3351375650	Nov 08, 2017 (151)
60	ILLUMINA	ss3652098043	Oct 12, 2018 (152)
61	EGCUT_WGS	ss3681302855	Jul 13, 2019 (153)
62	EVA_DECODE	ss3698992285	Jul 13, 2019 (153)
63	ILLUMINA	ss3725550384	Jul 13, 2019 (153)
64	ACPOP	ss3741404666	Jul 13, 2019 (153)
65	EVA	ss3753778642	Jul 13, 2019 (153)
66	PACBIO	ss3788002613	Jul 13, 2019 (153)
67	PACBIO	ss3792992837	Jul 13, 2019 (153)
68	PACBIO	ss3797877786	Jul 13, 2019 (153)
69	KHV_HUMAN_GENOMES	ss3819073673	Jul 13, 2019 (153)
70	EVA	ss3834513053	Apr 27, 2020 (154)
71	EVA	ss3840863708	Apr 27, 2020 (154)
72	EVA	ss3846354566	Apr 27, 2020 (154)
73	SGDP_PRJ	ss3884123630	Apr 27, 2020 (154)
74	KRGDB	ss3933442661	Apr 27, 2020 (154)
75	KOGIC	ss3977245150	Apr 27, 2020 (154)
76	EVA	ss3984710952	Apr 26, 2021 (155)
77	EVA	ss3985750286	Apr 26, 2021 (155)
78	TOPMED	ss5010373452	Apr 26, 2021 (155)
79	TOMMO_GENOMICS	ss5218813238	Apr 26, 2021 (155)
80	1000G_HIGH_COVERAGE	ss5300421729	Oct 16, 2022 (156)
81	EVA	ss5422812247	Oct 16, 2022 (156)
82	HUGCELL_USP	ss5493896542	Oct 16, 2022 (156)
83	1000G_HIGH_COVERAGE	ss5602784876	Oct 16, 2022 (156)
84	SANFORD_IMAGENETICS	ss5624376767	Oct 16, 2022 (156)
85	SANFORD_IMAGENETICS	ss5658627516	Oct 16, 2022 (156)
86	TOMMO_GENOMICS	ss5773406540	Oct 16, 2022 (156)
87	YY_MCH	ss5815829282	Oct 16, 2022 (156)
88	EVA	ss5846212743	Oct 16, 2022 (156)
89	EVA	ss5851522433	Oct 16, 2022 (156)
90	EVA	ss5898576397	Oct 16, 2022 (156)
91	EVA	ss5950048228	Oct 16, 2022 (156)
92	1000Genomes	NC_000016.9 - 20122290	Oct 12, 2018 (152)
93	1000Genomes_30x	NC_000016.10 - 20110968	Oct 16, 2022 (156)
94	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 20122290	Oct 12, 2018 (152)
95	Genetic variation in the Estonian population	NC_000016.9 - 20122290	Oct 12, 2018 (152)
96	The Danish reference pan genome	NC_000016.9 - 20122290	Apr 27, 2020 (154)
97	gnomAD - Genomes	NC_000016.10 - 20110968	Apr 26, 2021 (155)
98	Genome of the Netherlands Release 5	NC_000016.9 - 20122290	Apr 27, 2020 (154)
99	HapMap	NC_000016.10 - 20110968	Apr 27, 2020 (154)
100	KOREAN population from KRGDB	NC_000016.9 - 20122290	Apr 27, 2020 (154)
101	Korean Genome Project	NC_000016.10 - 20110968	Apr 27, 2020 (154)
102	Northern Sweden	NC_000016.9 - 20122290	Jul 13, 2019 (153)
103	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000016.9 - 20122290	Apr 26, 2021 (155)
104	CNV burdens in cranial meningiomas	NC_000016.9 - 20122290	Apr 26, 2021 (155)
105	Qatari	NC_000016.9 - 20122290	Apr 27, 2020 (154)
106	SGDP_PRJ	NC_000016.9 - 20122290	Apr 27, 2020 (154)
107	Siberian	NC_000016.9 - 20122290	Apr 27, 2020 (154)
108	8.3KJPN	NC_000016.9 - 20122290	Apr 26, 2021 (155)
109	14KJPN	NC_000016.10 - 20110968	Oct 16, 2022 (156)
110	TopMed	NC_000016.10 - 20110968	Apr 26, 2021 (155)
111	UK 10K study - Twins	NC_000016.9 - 20122290	Oct 12, 2018 (152)
112	A Vietnamese Genetic Variation Database	NC_000016.9 - 20122290	Jul 13, 2019 (153)
113	ALFA	NC_000016.10 - 20110968	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)
rs17737367	Oct 08, 2004 (123)
rs59521167	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss66278065, ss75932149, ss77175009, ss78074403, ss90343539, ss109252884, ss114942892, ss118215734, ss167989606, ss169302177, ss169381692, ss171077166, ss201532506, ss207529253, ss255571922, ss282467448, ss287047640, ss291932976, ss1696396076, ss1713531247	NC_000016.8:20029790:A:G	NC_000016.10:20110967:A:G	(self)
68837899, 38215049, 27041103, 4082580, 17047685, 40620055, 14689531, 976213, 260485, 17825635, 36140610, 9605764, 76782545, 38215049, 8488511, ss227182617, ss236981416, ss243330097, ss564830133, ss660578196, ss992362073, ss1080542534, ss1355692928, ss1427802259, ss1577868366, ss1634165118, ss1677159151, ss1808457779, ss1935783713, ss1968237179, ss2028678919, ss2157089410, ss2628832449, ss2701592474, ss2941234052, ss2985701522, ss3014206108, ss3021691552, ss3351375650, ss3652098043, ss3681302855, ss3741404666, ss3753778642, ss3788002613, ss3792992837, ss3797877786, ss3834513053, ss3840863708, ss3884123630, ss3933442661, ss3984710952, ss3985750286, ss5218813238, ss5422812247, ss5624376767, ss5658627516, ss5846212743, ss5950048228	NC_000016.9:20122289:A:G	NC_000016.10:20110967:A:G	(self)
90310811, 485113168, 1362998, 33623151, 107243644, 225919113, 8844556610, ss2211196115, ss3028163818, ss3698992285, ss3725550384, ss3819073673, ss3846354566, ss3977245150, ss5010373452, ss5300421729, ss5493896542, ss5602784876, ss5773406540, ss5815829282, ss5851522433, ss5898576397	NC_000016.10:20110967:A:G	NC_000016.10:20110967:A:G	(self)
ss10812924	NT_010393.13:11395507:A:G	NC_000016.10:20110967:A:G	(self)
ss14261286, ss17560026, ss20019935	NT_010393.14:11434622:A:G	NC_000016.10:20110967:A:G	(self)
ss3670635, ss24389538, ss43895527, ss69341103, ss81828604, ss103284734, ss136625488, ss157178473, ss161763026	NT_010393.16:20062289:A:G	NC_000016.10:20110967:A: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 rs2608200

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

rs2608200