Name: rs2821017
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.

rs2821017

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:3604307 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.428611 (113449/264690, TOPMED)
A=0.363890 (73751/202674, ALFA)
A=0.413219 (57868/140042, GnomAD) (+ 19 more)
G=0.43420 (12268/28254, 14KJPN)
G=0.43572 (7301/16756, 8.3KJPN)
A=0.4635 (2968/6404, 1000G_30x)
A=0.4615 (2311/5008, 1000G)
A=0.3390 (1518/4478, Estonian)
A=0.3415 (1316/3854, ALSPAC)
A=0.3447 (1278/3708, TWINSUK)
G=0.4416 (1292/2926, KOREAN)
A=0.4957 (1028/2074, HGDP_Stanford)
A=0.4776 (895/1874, HapMap)
A=0.327 (326/998, GoNL)
G=0.437 (333/762, PRJEB37584)
A=0.352 (211/600, NorthernSweden)
G=0.290 (119/410, SGDP_PRJ)
A=0.444 (96/216, Qatari)
G=0.476 (99/208, Vietnamese)
A=0.27 (20/74, Ancient Sardinia)
G=0.30 (13/44, Siberian)
A=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MEGF6 : 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	207672	G=0.635541	A=0.364459
European	Sub	183950	G=0.648236	A=0.351764
African	Sub	6142	G=0.5329	A=0.4671
African Others	Sub	234	G=0.543	A=0.457
African American	Sub	5908	G=0.5325	A=0.4675
Asian	Sub	540	G=0.457	A=0.543
East Asian	Sub	464	G=0.416	A=0.584
Other Asian	Sub	76	G=0.71	A=0.29
Latin American 1	Sub	360	G=0.625	A=0.375
Latin American 2	Sub	5436	G=0.4696	A=0.5304
South Asian	Sub	4996	G=0.5440	A=0.4560
Other	Sub	6248	G=0.5962	A=0.4038

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=0.571389	A=0.428611
Allele Frequency Aggregator	Total	Global	202674	G=0.636110	A=0.363890
Allele Frequency Aggregator	European	Sub	180858	G=0.648183	A=0.351817
Allele Frequency Aggregator	Other	Sub	5452	G=0.5990	A=0.4010
Allele Frequency Aggregator	Latin American 2	Sub	5436	G=0.4696	A=0.5304
Allele Frequency Aggregator	African	Sub	5032	G=0.5336	A=0.4664
Allele Frequency Aggregator	South Asian	Sub	4996	G=0.5440	A=0.4560
Allele Frequency Aggregator	Asian	Sub	540	G=0.457	A=0.543
Allele Frequency Aggregator	Latin American 1	Sub	360	G=0.625	A=0.375
gnomAD - Genomes	Global	Study-wide	140042	G=0.586781	A=0.413219
gnomAD - Genomes	European	Sub	75846	G=0.64561	A=0.35439
gnomAD - Genomes	African	Sub	41950	G=0.52203	A=0.47797
gnomAD - Genomes	American	Sub	13642	G=0.51921	A=0.48079
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.4946	A=0.5054
gnomAD - Genomes	East Asian	Sub	3128	G=0.4258	A=0.5742
gnomAD - Genomes	Other	Sub	2152	G=0.5804	A=0.4196
14KJPN	JAPANESE	Study-wide	28254	G=0.43420	A=0.56580
8.3KJPN	JAPANESE	Study-wide	16756	G=0.43572	A=0.56428
1000Genomes_30x	Global	Study-wide	6404	G=0.5365	A=0.4635
1000Genomes_30x	African	Sub	1786	G=0.5101	A=0.4899
1000Genomes_30x	Europe	Sub	1266	G=0.6485	A=0.3515
1000Genomes_30x	South Asian	Sub	1202	G=0.5458	A=0.4542
1000Genomes_30x	East Asian	Sub	1170	G=0.4556	A=0.5444
1000Genomes_30x	American	Sub	980	G=0.526	A=0.474
1000Genomes	Global	Study-wide	5008	G=0.5385	A=0.4615
1000Genomes	African	Sub	1322	G=0.5234	A=0.4766
1000Genomes	East Asian	Sub	1008	G=0.4524	A=0.5476
1000Genomes	Europe	Sub	1006	G=0.6481	A=0.3519
1000Genomes	South Asian	Sub	978	G=0.544	A=0.456
1000Genomes	American	Sub	694	G=0.526	A=0.474
Genetic variation in the Estonian population	Estonian	Study-wide	4478	G=0.6610	A=0.3390
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6585	A=0.3415
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6553	A=0.3447
KOREAN population from KRGDB	KOREAN	Study-wide	2926	G=0.4416	A=0.5584
HGDP-CEPH-db Supplement 1	Global	Study-wide	2074	G=0.5043	A=0.4957
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.406	A=0.594
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.507	A=0.493
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.574	A=0.426
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.672	A=0.328
HGDP-CEPH-db Supplement 1	Africa	Sub	232	G=0.534	A=0.466
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.204	A=0.796
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.85	A=0.15
HapMap	Global	Study-wide	1874	G=0.5224	A=0.4776
HapMap	American	Sub	768	G=0.565	A=0.435
HapMap	African	Sub	680	G=0.487	A=0.513
HapMap	Asian	Sub	250	G=0.388	A=0.612
HapMap	Europe	Sub	176	G=0.665	A=0.335
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.673	A=0.327
CNV burdens in cranial meningiomas	Global	Study-wide	762	G=0.437	A=0.563
CNV burdens in cranial meningiomas	CRM	Sub	762	G=0.437	A=0.563
Northern Sweden	ACPOP	Study-wide	600	G=0.648	A=0.352
SGDP_PRJ	Global	Study-wide	410	G=0.290	A=0.710
Qatari	Global	Study-wide	216	G=0.556	A=0.444
A Vietnamese Genetic Variation Database	Global	Study-wide	208	G=0.476	A=0.524
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	74	G=0.73	A=0.27
Siberian	Global	Study-wide	44	G=0.30	A=0.70
The Danish reference pan genome	Danish	Study-wide	40	G=0.75	A=0.25

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 1	NC_000001.11:g.3604307G>A
GRCh37.p13 chr 1	NC_000001.10:g.3520871G>A

Gene: MEGF6, multiple EGF like domains 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MEGF6 transcript variant 1	NM_001409.4:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X1	XM_011540886.3:c.318-1707… XM_011540886.3:c.318-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X15	XM_011540888.4:c.318-1707… XM_011540888.4:c.318-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X2	XM_017000533.3:c.318-1707… XM_017000533.3:c.318-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X3	XM_047448204.1:c.132-1707… XM_047448204.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X4	XM_047448205.1:c.132-1707… XM_047448205.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X5	XM_047448215.1:c.132-1707… XM_047448215.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X6	XM_047448217.1:c.132-1707… XM_047448217.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X7	XM_047448220.1:c.132-1707… XM_047448220.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X8	XM_047448221.1:c.132-1707… XM_047448221.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X9	XM_047448228.1:c.132-1707… XM_047448228.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X10	XM_047448229.1:c.132-1707… XM_047448229.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X11	XM_047448232.1:c.132-1707… XM_047448232.1:c.132-1707C>T	N/A	Intron Variant
MEGF6 transcript variant X10	XM_006710406.5:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X12	XM_011540887.3:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X13	XM_047448238.1:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X14	XM_047448239.1:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X16	XM_047448242.1:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X17	XM_047448245.1:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X18	XM_047448247.1:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X19	XM_047448251.1:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X20	XM_047448255.1:c.	N/A	Genic Upstream Transcript Variant
MEGF6 transcript variant X21	XM_047448256.1: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	G=	A
GRCh38.p14 chr 1	NC_000001.11:g.3604307=	NC_000001.11:g.3604307G>A
GRCh37.p13 chr 1	NC_000001.10:g.3520871=	NC_000001.10:g.3520871G>A
MEGF6 transcript	NM_001409.3:c.132-1707=	NM_001409.3:c.132-1707C>T
MEGF6 transcript variant 1	NM_001409.4:c.132-1707=	NM_001409.4:c.132-1707C>T
MEGF6 transcript variant X1	XM_011540886.3:c.318-1707=	XM_011540886.3:c.318-1707C>T
MEGF6 transcript variant X15	XM_011540888.4:c.318-1707=	XM_011540888.4:c.318-1707C>T
MEGF6 transcript variant X2	XM_017000533.3:c.318-1707=	XM_017000533.3:c.318-1707C>T
MEGF6 transcript variant X3	XM_047448204.1:c.132-1707=	XM_047448204.1:c.132-1707C>T
MEGF6 transcript variant X4	XM_047448205.1:c.132-1707=	XM_047448205.1:c.132-1707C>T
MEGF6 transcript variant X5	XM_047448215.1:c.132-1707=	XM_047448215.1:c.132-1707C>T
MEGF6 transcript variant X6	XM_047448217.1:c.132-1707=	XM_047448217.1:c.132-1707C>T
MEGF6 transcript variant X7	XM_047448220.1:c.132-1707=	XM_047448220.1:c.132-1707C>T
MEGF6 transcript variant X8	XM_047448221.1:c.132-1707=	XM_047448221.1:c.132-1707C>T
MEGF6 transcript variant X9	XM_047448228.1:c.132-1707=	XM_047448228.1:c.132-1707C>T
MEGF6 transcript variant X10	XM_047448229.1:c.132-1707=	XM_047448229.1:c.132-1707C>T
MEGF6 transcript variant X11	XM_047448232.1:c.132-1707=	XM_047448232.1:c.132-1707C>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#.

122 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3994913	Sep 28, 2001 (100)
2	CSHL-HAPMAP	ss16384105	Feb 27, 2004 (120)
3	SSAHASNP	ss20429302	Apr 05, 2004 (121)
4	ABI	ss44013762	Mar 14, 2006 (126)
5	ILLUMINA	ss66808636	Dec 02, 2006 (127)
6	ILLUMINA	ss67275191	Dec 02, 2006 (127)
7	ILLUMINA	ss67676528	Dec 02, 2006 (127)
8	PERLEGEN	ss68756647	May 18, 2007 (127)
9	ILLUMINA	ss70753694	May 25, 2008 (130)
10	ILLUMINA	ss71326582	May 18, 2007 (127)
11	ILLUMINA	ss75860536	Dec 06, 2007 (129)
12	ILLUMINA	ss79148201	Dec 15, 2007 (130)
13	KRIBB_YJKIM	ss84091255	Dec 15, 2007 (130)
14	CORNELL	ss86240018	Mar 23, 2008 (129)
15	HUMANGENOME_JCVI	ss99181116	Feb 06, 2009 (130)
16	BGI	ss102715015	Dec 01, 2009 (131)
17	ILLUMINA-UK	ss118452258	Feb 14, 2009 (130)
18	ILLUMINA	ss122111953	Dec 01, 2009 (131)
19	ILLUMINA	ss154236407	Dec 01, 2009 (131)
20	GMI	ss154558240	Dec 01, 2009 (131)
21	ILLUMINA	ss159412817	Dec 01, 2009 (131)
22	ILLUMINA	ss160582242	Dec 01, 2009 (131)
23	ENSEMBL	ss161248319	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss163734780	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss166006707	Jul 04, 2010 (132)
26	ILLUMINA	ss171396491	Jul 04, 2010 (132)
27	ILLUMINA	ss173474573	Jul 04, 2010 (132)
28	BUSHMAN	ss197921899	Jul 04, 2010 (132)
29	BCM-HGSC-SUB	ss205491997	Jul 04, 2010 (132)
30	1000GENOMES	ss218202212	Jul 14, 2010 (132)
31	1000GENOMES	ss230403411	Jul 14, 2010 (132)
32	1000GENOMES	ss238122384	Jul 15, 2010 (132)
33	BL	ss252879071	May 09, 2011 (134)
34	GMI	ss275690826	May 04, 2012 (137)
35	GMI	ss283990738	Apr 25, 2013 (138)
36	ILLUMINA	ss480673196	May 04, 2012 (137)
37	ILLUMINA	ss480688732	May 04, 2012 (137)
38	ILLUMINA	ss481543115	Sep 08, 2015 (146)
39	ILLUMINA	ss485131519	May 04, 2012 (137)
40	TISHKOFF	ss553732883	Apr 25, 2013 (138)
41	SSMP	ss647535016	Apr 25, 2013 (138)
42	ILLUMINA	ss783012065	Sep 08, 2015 (146)
43	ILLUMINA	ss825478719	Jul 19, 2016 (147)
44	ILLUMINA	ss832269439	Sep 08, 2015 (146)
45	ILLUMINA	ss832924487	Jul 12, 2019 (153)
46	EVA-GONL	ss974794372	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1067626048	Aug 21, 2014 (142)
48	1000GENOMES	ss1289443938	Aug 21, 2014 (142)
49	DDI	ss1425692326	Apr 01, 2015 (144)
50	EVA_GENOME_DK	ss1573859345	Apr 01, 2015 (144)
51	EVA_DECODE	ss1584153356	Apr 01, 2015 (144)
52	EVA_UK10K_ALSPAC	ss1599423603	Apr 01, 2015 (144)
53	EVA_UK10K_TWINSUK	ss1642417636	Apr 01, 2015 (144)
54	EVA_SVP	ss1712306645	Apr 01, 2015 (144)
55	ILLUMINA	ss1751916972	Sep 08, 2015 (146)
56	HAMMER_LAB	ss1793781950	Sep 08, 2015 (146)
57	WEILL_CORNELL_DGM	ss1917989847	Feb 12, 2016 (147)
58	ILLUMINA	ss1945982690	Feb 12, 2016 (147)
59	ILLUMINA	ss1958234441	Feb 12, 2016 (147)
60	GENOMED	ss1966670994	Jul 19, 2016 (147)
61	JJLAB	ss2019511061	Sep 14, 2016 (149)
62	USC_VALOUEV	ss2147501398	Dec 20, 2016 (150)
63	HUMAN_LONGEVITY	ss2159559012	Dec 20, 2016 (150)
64	SYSTEMSBIOZJU	ss2624271357	Nov 08, 2017 (151)
65	ILLUMINA	ss2632468391	Nov 08, 2017 (151)
66	GRF	ss2697395321	Nov 08, 2017 (151)
67	ILLUMINA	ss2710661264	Nov 08, 2017 (151)
68	GNOMAD	ss2750951771	Nov 08, 2017 (151)
69	SWEGEN	ss2986198397	Nov 08, 2017 (151)
70	ILLUMINA	ss3021047342	Nov 08, 2017 (151)
71	BIOINF_KMB_FNS_UNIBA	ss3023519150	Nov 08, 2017 (151)
72	CSHL	ss3343287939	Nov 08, 2017 (151)
73	ILLUMINA	ss3633572114	Oct 11, 2018 (152)
74	ILLUMINA	ss3634303346	Oct 11, 2018 (152)
75	ILLUMINA	ss3635266294	Oct 11, 2018 (152)
76	ILLUMINA	ss3635979677	Oct 11, 2018 (152)
77	ILLUMINA	ss3637016644	Oct 11, 2018 (152)
78	ILLUMINA	ss3637733653	Oct 11, 2018 (152)
79	ILLUMINA	ss3638888240	Oct 11, 2018 (152)
80	ILLUMINA	ss3639440861	Oct 11, 2018 (152)
81	ILLUMINA	ss3640010711	Oct 11, 2018 (152)
82	ILLUMINA	ss3642747865	Oct 11, 2018 (152)
83	ILLUMINA	ss3644478552	Oct 11, 2018 (152)
84	URBANLAB	ss3646586316	Oct 11, 2018 (152)
85	ILLUMINA	ss3651369988	Oct 11, 2018 (152)
86	EGCUT_WGS	ss3654299427	Jul 12, 2019 (153)
87	EVA_DECODE	ss3686043510	Jul 12, 2019 (153)
88	ACPOP	ss3726738371	Jul 12, 2019 (153)
89	ILLUMINA	ss3744041013	Jul 12, 2019 (153)
90	ILLUMINA	ss3744604343	Jul 12, 2019 (153)
91	EVA	ss3745752779	Jul 12, 2019 (153)
92	ILLUMINA	ss3772105998	Jul 12, 2019 (153)
93	PACBIO	ss3783308317	Jul 12, 2019 (153)
94	PACBIO	ss3788985242	Jul 12, 2019 (153)
95	PACBIO	ss3793857870	Jul 12, 2019 (153)
96	KHV_HUMAN_GENOMES	ss3798774457	Jul 12, 2019 (153)
97	EVA	ss3825993088	Apr 25, 2020 (154)
98	EVA	ss3836383635	Apr 25, 2020 (154)
99	EVA	ss3841787780	Apr 25, 2020 (154)
100	HGDP	ss3847322528	Apr 25, 2020 (154)
101	SGDP_PRJ	ss3848065309	Apr 25, 2020 (154)
102	KRGDB	ss3892926267	Apr 25, 2020 (154)
103	EVA	ss3984451095	Apr 25, 2021 (155)
104	EVA	ss3984774856	Apr 25, 2021 (155)
105	EVA	ss4016890015	Apr 25, 2021 (155)
106	TOPMED	ss4437245951	Apr 25, 2021 (155)
107	TOMMO_GENOMICS	ss5142193335	Apr 25, 2021 (155)
108	1000G_HIGH_COVERAGE	ss5240961484	Oct 12, 2022 (156)
109	EVA	ss5314587604	Oct 12, 2022 (156)
110	EVA	ss5316361311	Oct 12, 2022 (156)
111	HUGCELL_USP	ss5442188028	Oct 12, 2022 (156)
112	EVA	ss5505751405	Oct 12, 2022 (156)
113	1000G_HIGH_COVERAGE	ss5512624299	Oct 12, 2022 (156)
114	SANFORD_IMAGENETICS	ss5624804634	Oct 12, 2022 (156)
115	TOMMO_GENOMICS	ss5666404145	Oct 12, 2022 (156)
116	EVA	ss5799473052	Oct 12, 2022 (156)
117	YY_MCH	ss5800269967	Oct 12, 2022 (156)
118	EVA	ss5831456906	Oct 12, 2022 (156)
119	EVA	ss5847522683	Oct 12, 2022 (156)
120	EVA	ss5848758298	Oct 12, 2022 (156)
121	EVA	ss5906803175	Oct 12, 2022 (156)
122	EVA	ss5936629517	Oct 12, 2022 (156)
123	1000Genomes	NC_000001.10 - 3520871	Oct 11, 2018 (152)
124	1000Genomes_30x	NC_000001.11 - 3604307	Oct 12, 2022 (156)
125	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 3520871	Oct 11, 2018 (152)
126	Genetic variation in the Estonian population	NC_000001.10 - 3520871	Oct 11, 2018 (152)
127	The Danish reference pan genome	NC_000001.10 - 3520871	Apr 25, 2020 (154)
128	gnomAD - Genomes	NC_000001.11 - 3604307	Apr 25, 2021 (155)
129	Genome of the Netherlands Release 5	NC_000001.10 - 3520871	Apr 25, 2020 (154)
130	HGDP-CEPH-db Supplement 1	NC_000001.9 - 3510731	Apr 25, 2020 (154)
131	HapMap	NC_000001.11 - 3604307	Apr 25, 2020 (154)
132	KOREAN population from KRGDB	NC_000001.10 - 3520871	Apr 25, 2020 (154)
133	Northern Sweden	NC_000001.10 - 3520871	Jul 12, 2019 (153)
134	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 3520871	Apr 25, 2021 (155)
135	CNV burdens in cranial meningiomas	NC_000001.10 - 3520871	Apr 25, 2021 (155)
136	Qatari	NC_000001.10 - 3520871	Apr 25, 2020 (154)
137	SGDP_PRJ	NC_000001.10 - 3520871	Apr 25, 2020 (154)
138	Siberian	NC_000001.10 - 3520871	Apr 25, 2020 (154)
139	8.3KJPN	NC_000001.10 - 3520871	Apr 25, 2021 (155)
140	14KJPN	NC_000001.11 - 3604307	Oct 12, 2022 (156)
141	TopMed	NC_000001.11 - 3604307	Apr 25, 2021 (155)
142	UK 10K study - Twins	NC_000001.10 - 3520871	Oct 11, 2018 (152)
143	A Vietnamese Genetic Variation Database	NC_000001.10 - 3520871	Jul 12, 2019 (153)
144	ALFA	NC_000001.11 - 3604307	Apr 25, 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)
rs60300465	May 25, 2008 (130)
rs117777109	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3638888240, ss3639440861	NC_000001.8:3544027:G:A	NC_000001.11:3604306:G:A	(self)
420, ss118452258, ss163734780, ss166006707, ss197921899, ss205491997, ss252879071, ss275690826, ss283990738, ss480673196, ss825478719, ss1584153356, ss1712306645, ss2710661264, ss3642747865, ss3847322528	NC_000001.9:3510730:G:A	NC_000001.11:3604306:G:A	(self)
111714, 49526, 37675, 1366579, 21216, 103661, 23236, 783, 395, 31777, 82289, 17752, 162642, 49526, 10322, ss218202212, ss230403411, ss238122384, ss480688732, ss481543115, ss485131519, ss553732883, ss647535016, ss783012065, ss832269439, ss832924487, ss974794372, ss1067626048, ss1289443938, ss1425692326, ss1573859345, ss1599423603, ss1642417636, ss1751916972, ss1793781950, ss1917989847, ss1945982690, ss1958234441, ss1966670994, ss2019511061, ss2147501398, ss2624271357, ss2632468391, ss2697395321, ss2750951771, ss2986198397, ss3021047342, ss3343287939, ss3633572114, ss3634303346, ss3635266294, ss3635979677, ss3637016644, ss3637733653, ss3640010711, ss3644478552, ss3651369988, ss3654299427, ss3726738371, ss3744041013, ss3744604343, ss3745752779, ss3772105998, ss3783308317, ss3788985242, ss3793857870, ss3825993088, ss3836383635, ss3848065309, ss3892926267, ss3984451095, ss3984774856, ss4016890015, ss5142193335, ss5314587604, ss5316361311, ss5505751405, ss5624804634, ss5799473052, ss5831456906, ss5847522683, ss5936629517	NC_000001.10:3520870:G:A	NC_000001.11:3604306:G:A	(self)
150234, 814102, 2572, 241249, 852286, 15903670755, ss2159559012, ss3023519150, ss3646586316, ss3686043510, ss3798774457, ss3841787780, ss4437245951, ss5240961484, ss5442188028, ss5512624299, ss5666404145, ss5800269967, ss5848758298, ss5906803175	NC_000001.11:3604306:G:A	NC_000001.11:3604306:G:A	(self)
ss16384105, ss20429302	NT_004321.15:827645:G:A	NC_000001.11:3604306:G:A	(self)
ss3994913, ss44013762, ss66808636, ss67275191, ss67676528, ss68756647, ss70753694, ss71326582, ss75860536, ss79148201, ss84091255, ss86240018, ss99181116, ss102715015, ss122111953, ss154236407, ss154558240, ss159412817, ss160582242, ss161248319, ss171396491, ss173474573	NT_004350.19:2999502:G:A	NC_000001.11:3604306:G:A	(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 rs2821017

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

rs2821017