Name: rs2708851
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.

rs2708851

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:48046205 (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=0.428641 (113457/264690, TOPMED)
A=0.483436 (108808/225072, ALFA)
A=0.443484 (61568/138828, GnomAD) (+ 19 more)
A=0.35696 (10037/28118, 14KJPN)
A=0.36365 (6094/16758, 8.3KJPN)
A=0.4038 (2586/6404, 1000G_30x)
A=0.4056 (2031/5008, 1000G)
G=0.4914 (1894/3854, ALSPAC)
G=0.4814 (1785/3708, TWINSUK)
A=0.4181 (1225/2930, KOREAN)
A=0.4031 (840/2084, HGDP_Stanford)
A=0.3708 (700/1888, HapMap)
A=0.4372 (801/1832, Korea1K)
G=0.487 (486/998, GoNL)
G=0.500 (300/600, NorthernSweden)
A=0.500 (300/600, NorthernSweden)
G=0.355 (120/338, SGDP_PRJ)
A=0.273 (59/216, Qatari)
A=0.454 (98/216, Vietnamese)
A=0.31 (24/78, Ancient Sardinia)
G=0.38 (18/48, Siberian)
G=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: C7orf57 : Intron Variant
Publications: 1 citation
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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	225072	G=0.516564	A=0.483436	0.270509	0.237382	0.492109	14
European	Sub	194472	G=0.506222	A=0.493778	0.258186	0.245742	0.496071	4
African	Sub	7098	G=0.6934	A=0.3066	0.487743	0.100873	0.411383	2
African Others	Sub	264	G=0.697	A=0.303	0.492424	0.098485	0.409091	0
African American	Sub	6834	G=0.6933	A=0.3067	0.487562	0.100966	0.411472	2
Asian	Sub	704	G=0.565	A=0.435	0.318182	0.1875	0.494318	0
East Asian	Sub	558	G=0.557	A=0.443	0.322581	0.207885	0.469534	0
Other Asian	Sub	146	G=0.596	A=0.404	0.30137	0.109589	0.589041	2
Latin American 1	Sub	844	G=0.559	A=0.441	0.303318	0.184834	0.511848	0
Latin American 2	Sub	6906	G=0.5070	A=0.4930	0.263539	0.249638	0.486823	2
South Asian	Sub	5042	G=0.6331	A=0.3669	0.412138	0.145974	0.441888	4
Other	Sub	10006	G=0.53298	A=0.46702	0.28323	0.21727	0.4995	0

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=0.571359	A=0.428641
Allele Frequency Aggregator	Total	Global	225072	G=0.516564	A=0.483436
Allele Frequency Aggregator	European	Sub	194472	G=0.506222	A=0.493778
Allele Frequency Aggregator	Other	Sub	10006	G=0.53298	A=0.46702
Allele Frequency Aggregator	African	Sub	7098	G=0.6934	A=0.3066
Allele Frequency Aggregator	Latin American 2	Sub	6906	G=0.5070	A=0.4930
Allele Frequency Aggregator	South Asian	Sub	5042	G=0.6331	A=0.3669
Allele Frequency Aggregator	Latin American 1	Sub	844	G=0.559	A=0.441
Allele Frequency Aggregator	Asian	Sub	704	G=0.565	A=0.435
gnomAD - Genomes	Global	Study-wide	138828	G=0.556516	A=0.443484
gnomAD - Genomes	European	Sub	75454	G=0.48395	A=0.51605
gnomAD - Genomes	African	Sub	41352	G=0.69554	A=0.30446
gnomAD - Genomes	American	Sub	13480	G=0.52767	A=0.47233
gnomAD - Genomes	Ashkenazi Jewish	Sub	3308	G=0.5919	A=0.4081
gnomAD - Genomes	East Asian	Sub	3112	G=0.5325	A=0.4675
gnomAD - Genomes	Other	Sub	2122	G=0.5910	A=0.4090
14KJPN	JAPANESE	Study-wide	28118	G=0.64304	A=0.35696
8.3KJPN	JAPANESE	Study-wide	16758	G=0.63635	A=0.36365
1000Genomes_30x	Global	Study-wide	6404	G=0.5962	A=0.4038
1000Genomes_30x	African	Sub	1786	G=0.7128	A=0.2872
1000Genomes_30x	Europe	Sub	1266	G=0.4992	A=0.5008
1000Genomes_30x	South Asian	Sub	1202	G=0.6331	A=0.3669
1000Genomes_30x	East Asian	Sub	1170	G=0.5590	A=0.4410
1000Genomes_30x	American	Sub	980	G=0.508	A=0.492
1000Genomes	Global	Study-wide	5008	G=0.5944	A=0.4056
1000Genomes	African	Sub	1322	G=0.7073	A=0.2927
1000Genomes	East Asian	Sub	1008	G=0.5565	A=0.4435
1000Genomes	Europe	Sub	1006	G=0.4970	A=0.5030
1000Genomes	South Asian	Sub	978	G=0.639	A=0.361
1000Genomes	American	Sub	694	G=0.513	A=0.487
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.4914	A=0.5086
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4814	A=0.5186
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.5819	A=0.4181
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.5969	A=0.4031
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.547	A=0.453
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.640	A=0.360
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.669	A=0.331
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.453	A=0.547
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.752	A=0.248
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.477	A=0.523
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.81	A=0.19
HapMap	Global	Study-wide	1888	G=0.6292	A=0.3708
HapMap	American	Sub	766	G=0.560	A=0.440
HapMap	African	Sub	692	G=0.731	A=0.269
HapMap	Asian	Sub	254	G=0.606	A=0.394
HapMap	Europe	Sub	176	G=0.562	A=0.438
Korean Genome Project	KOREAN	Study-wide	1832	G=0.5628	A=0.4372
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.487	A=0.513
Northern Sweden	ACPOP	Study-wide	600	G=0.500	A=0.500
SGDP_PRJ	Global	Study-wide	338	G=0.355	A=0.645
Qatari	Global	Study-wide	216	G=0.727	A=0.273
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.546	A=0.454
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	78	G=0.69	A=0.31
Siberian	Global	Study-wide	48	G=0.38	A=0.62
The Danish reference pan genome	Danish	Study-wide	40	G=0.45	A=0.55

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 7	NC_000007.14:g.48046205G>A
GRCh37.p13 chr 7	NC_000007.13:g.48085802G>A

Gene: C7orf57, chromosome 7 open reading frame 57 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
C7orf57 transcript variant 1	NM_001100159.3:c.351-255G… NM_001100159.3:c.351-255G>A	N/A	Intron Variant
C7orf57 transcript variant 2	NM_001267865.2:c.-16-255G… NM_001267865.2:c.-16-255G>A	N/A	Intron Variant
C7orf57 transcript variant 3	NM_001267866.2:c.-16-255G… NM_001267866.2:c.-16-255G>A	N/A	Intron Variant
C7orf57 transcript variant X6	XM_006715650.4:c.-16-255G… XM_006715650.4:c.-16-255G>A	N/A	Intron Variant
C7orf57 transcript variant X1	XM_011515121.3:c.351-255G… XM_011515121.3:c.351-255G>A	N/A	Intron Variant
C7orf57 transcript variant X4	XM_011515122.4:c.351-255G… XM_011515122.4:c.351-255G>A	N/A	Intron Variant
C7orf57 transcript variant X2	XM_024446653.2:c.351-255G… XM_024446653.2:c.351-255G>A	N/A	Intron Variant
C7orf57 transcript variant X3	XM_047419885.1:c.351-255G… XM_047419885.1:c.351-255G>A	N/A	Intron Variant
C7orf57 transcript variant X5	XM_047419886.1:c.351-255G… XM_047419886.1:c.351-255G>A	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
GRCh38.p14 chr 7	NC_000007.14:g.48046205=	NC_000007.14:g.48046205G>A
GRCh37.p13 chr 7	NC_000007.13:g.48085802=	NC_000007.13:g.48085802G>A
C7orf57 transcript variant 1	NM_001100159.2:c.351-255=	NM_001100159.2:c.351-255G>A
C7orf57 transcript variant 1	NM_001100159.3:c.351-255=	NM_001100159.3:c.351-255G>A
C7orf57 transcript variant 2	NM_001267865.1:c.-16-255=	NM_001267865.1:c.-16-255G>A
C7orf57 transcript variant 2	NM_001267865.2:c.-16-255=	NM_001267865.2:c.-16-255G>A
C7orf57 transcript variant 3	NM_001267866.1:c.-16-255=	NM_001267866.1:c.-16-255G>A
C7orf57 transcript variant 3	NM_001267866.2:c.-16-255=	NM_001267866.2:c.-16-255G>A
C7orf57 transcript variant X6	XM_006715650.4:c.-16-255=	XM_006715650.4:c.-16-255G>A
C7orf57 transcript variant X1	XM_011515121.3:c.351-255=	XM_011515121.3:c.351-255G>A
C7orf57 transcript variant X4	XM_011515122.4:c.351-255=	XM_011515122.4:c.351-255G>A
C7orf57 transcript variant X2	XM_024446653.2:c.351-255=	XM_024446653.2:c.351-255G>A
C7orf57 transcript variant X3	XM_047419885.1:c.351-255=	XM_047419885.1:c.351-255G>A
C7orf57 transcript variant X5	XM_047419886.1:c.351-255=	XM_047419886.1:c.351-255G>A

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#.

118 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3828124	Sep 28, 2001 (100)
2	WUGSC_SSAHASNP	ss14584350	Dec 05, 2003 (120)
3	PERLEGEN	ss24184556	Sep 20, 2004 (123)
4	ILLUMINA	ss67268877	Nov 30, 2006 (127)
5	ILLUMINA	ss67669192	Nov 30, 2006 (127)
6	ILLUMINA	ss68210457	Dec 12, 2006 (127)
7	PERLEGEN	ss69015534	May 17, 2007 (127)
8	ILLUMINA	ss70747306	May 27, 2008 (130)
9	ILLUMINA	ss71319182	May 17, 2007 (127)
10	ILLUMINA	ss75879587	Dec 06, 2007 (129)
11	HGSV	ss81051799	Dec 16, 2007 (130)
12	KRIBB_YJKIM	ss84070762	Dec 16, 2007 (130)
13	HGSV	ss86001098	Dec 16, 2007 (130)
14	HGSV	ss86205717	Dec 16, 2007 (130)
15	BGI	ss104425111	Dec 01, 2009 (131)
16	1000GENOMES	ss111943583	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss116067071	Dec 01, 2009 (131)
18	ILLUMINA	ss154229321	Dec 01, 2009 (131)
19	GMI	ss154743526	Dec 01, 2009 (131)
20	ILLUMINA	ss159405856	Dec 01, 2009 (131)
21	ILLUMINA	ss160571800	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss166542901	Jul 04, 2010 (132)
23	ILLUMINA	ss173437073	Jul 04, 2010 (132)
24	BUSHMAN	ss203287029	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss208210225	Jul 04, 2010 (132)
26	ILLUMINA	ss209088600	Jul 04, 2010 (132)
27	1000GENOMES	ss223058478	Jul 14, 2010 (132)
28	1000GENOMES	ss233962958	Jul 15, 2010 (132)
29	1000GENOMES	ss240919722	Jul 15, 2010 (132)
30	BL	ss254249071	May 09, 2011 (134)
31	GMI	ss279293833	May 04, 2012 (137)
32	GMI	ss285621662	Apr 25, 2013 (138)
33	ILLUMINA	ss480641556	May 04, 2012 (137)
34	ILLUMINA	ss480656861	May 04, 2012 (137)
35	ILLUMINA	ss481501381	Sep 08, 2015 (146)
36	ILLUMINA	ss485115794	May 04, 2012 (137)
37	ILLUMINA	ss537118464	Sep 08, 2015 (146)
38	TISHKOFF	ss559983770	Apr 25, 2013 (138)
39	SSMP	ss654342843	Apr 25, 2013 (138)
40	ILLUMINA	ss778876702	Sep 08, 2015 (146)
41	ILLUMINA	ss783004220	Sep 08, 2015 (146)
42	ILLUMINA	ss783964626	Sep 08, 2015 (146)
43	ILLUMINA	ss832261431	Sep 08, 2015 (146)
44	ILLUMINA	ss832917555	Jul 13, 2019 (153)
45	ILLUMINA	ss834337663	Sep 08, 2015 (146)
46	EVA-GONL	ss984241355	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1074582591	Aug 21, 2014 (142)
48	1000GENOMES	ss1324999497	Aug 21, 2014 (142)
49	DDI	ss1431112280	Apr 01, 2015 (144)
50	EVA_GENOME_DK	ss1582187389	Apr 01, 2015 (144)
51	EVA_DECODE	ss1593818328	Apr 01, 2015 (144)
52	EVA_UK10K_ALSPAC	ss1618144260	Apr 01, 2015 (144)
53	EVA_UK10K_TWINSUK	ss1661138293	Apr 01, 2015 (144)
54	EVA_SVP	ss1712953556	Apr 01, 2015 (144)
55	ILLUMINA	ss1752688296	Sep 08, 2015 (146)
56	HAMMER_LAB	ss1804988478	Sep 08, 2015 (146)
57	WEILL_CORNELL_DGM	ss1927485899	Feb 12, 2016 (147)
58	GENOMED	ss1970692283	Jul 19, 2016 (147)
59	JJLAB	ss2024425750	Sep 14, 2016 (149)
60	USC_VALOUEV	ss2152622364	Dec 20, 2016 (150)
61	HUMAN_LONGEVITY	ss2293778464	Dec 20, 2016 (150)
62	SYSTEMSBIOZJU	ss2626699921	Nov 08, 2017 (151)
63	ILLUMINA	ss2634603063	Nov 08, 2017 (151)
64	GRF	ss2708286024	Nov 08, 2017 (151)
65	GNOMAD	ss2852778974	Nov 08, 2017 (151)
66	SWEGEN	ss3001064248	Nov 08, 2017 (151)
67	BIOINF_KMB_FNS_UNIBA	ss3026007997	Nov 08, 2017 (151)
68	CSHL	ss3347568353	Nov 08, 2017 (151)
69	ILLUMINA	ss3629811798	Oct 12, 2018 (152)
70	ILLUMINA	ss3632510681	Oct 12, 2018 (152)
71	ILLUMINA	ss3633462647	Oct 12, 2018 (152)
72	ILLUMINA	ss3634187537	Oct 12, 2018 (152)
73	ILLUMINA	ss3635120697	Oct 12, 2018 (152)
74	ILLUMINA	ss3635867380	Oct 12, 2018 (152)
75	ILLUMINA	ss3636852739	Oct 12, 2018 (152)
76	ILLUMINA	ss3637620348	Oct 12, 2018 (152)
77	ILLUMINA	ss3638696545	Oct 12, 2018 (152)
78	ILLUMINA	ss3639350984	Oct 12, 2018 (152)
79	ILLUMINA	ss3639970238	Oct 12, 2018 (152)
80	ILLUMINA	ss3640827990	Oct 12, 2018 (152)
81	ILLUMINA	ss3643632436	Oct 12, 2018 (152)
82	ILLUMINA	ss3644014407	Oct 12, 2018 (152)
83	EVA_DECODE	ss3719630079	Jul 13, 2019 (153)
84	ACPOP	ss3734601408	Jul 13, 2019 (153)
85	ILLUMINA	ss3744567906	Jul 13, 2019 (153)
86	ILLUMINA	ss3745420749	Jul 13, 2019 (153)
87	EVA	ss3766523126	Jul 13, 2019 (153)
88	ILLUMINA	ss3772913689	Jul 13, 2019 (153)
89	PACBIO	ss3785808002	Jul 13, 2019 (153)
90	PACBIO	ss3791111067	Jul 13, 2019 (153)
91	PACBIO	ss3795991017	Jul 13, 2019 (153)
92	KHV_HUMAN_GENOMES	ss3809683395	Jul 13, 2019 (153)
93	EVA	ss3830555777	Apr 26, 2020 (154)
94	EVA	ss3838766070	Apr 26, 2020 (154)
95	EVA	ss3844218186	Apr 26, 2020 (154)
96	HGDP	ss3847876295	Apr 26, 2020 (154)
97	SGDP_PRJ	ss3867199455	Apr 26, 2020 (154)
98	KRGDB	ss3914273468	Apr 26, 2020 (154)
99	KOGIC	ss3961405264	Apr 26, 2020 (154)
100	EVA	ss3985295376	Apr 27, 2021 (155)
101	EVA	ss4017335277	Apr 27, 2021 (155)
102	TOPMED	ss4744862528	Apr 27, 2021 (155)
103	TOMMO_GENOMICS	ss5183008491	Apr 27, 2021 (155)
104	1000G_HIGH_COVERAGE	ss5272763924	Oct 14, 2022 (156)
105	EVA	ss5315246521	Oct 14, 2022 (156)
106	EVA	ss5373353298	Oct 14, 2022 (156)
107	HUGCELL_USP	ss5469948823	Oct 14, 2022 (156)
108	EVA	ss5508943344	Oct 14, 2022 (156)
109	1000G_HIGH_COVERAGE	ss5560873754	Oct 14, 2022 (156)
110	SANFORD_IMAGENETICS	ss5642883730	Oct 14, 2022 (156)
111	TOMMO_GENOMICS	ss5722803566	Oct 14, 2022 (156)
112	EVA	ss5799724309	Oct 14, 2022 (156)
113	YY_MCH	ss5808571942	Oct 14, 2022 (156)
114	EVA	ss5822777317	Oct 14, 2022 (156)
115	EVA	ss5855879271	Oct 14, 2022 (156)
116	EVA	ss5858778359	Oct 14, 2022 (156)
117	EVA	ss5972098831	Oct 14, 2022 (156)
118	EVA	ss5980431821	Oct 14, 2022 (156)
119	1000Genomes	NC_000007.13 - 48085802	Oct 12, 2018 (152)
120	1000Genomes_30x	NC_000007.14 - 48046205	Oct 14, 2022 (156)
121	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 48085802	Oct 12, 2018 (152)
122	The Danish reference pan genome	NC_000007.13 - 48085802	Apr 26, 2020 (154)
123	gnomAD - Genomes	NC_000007.14 - 48046205	Apr 27, 2021 (155)
124	Genome of the Netherlands Release 5	NC_000007.13 - 48085802	Apr 26, 2020 (154)
125	HGDP-CEPH-db Supplement 1	NC_000007.12 - 48052327	Apr 26, 2020 (154)
126	HapMap	NC_000007.14 - 48046205	Apr 26, 2020 (154)
127	KOREAN population from KRGDB	NC_000007.13 - 48085802	Apr 26, 2020 (154)
128	Korean Genome Project	NC_000007.14 - 48046205	Apr 26, 2020 (154)
129	Northern Sweden	NC_000007.13 - 48085802	Jul 13, 2019 (153)
130	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 48085802	Apr 27, 2021 (155)
131	Qatari	NC_000007.13 - 48085802	Apr 26, 2020 (154)
132	SGDP_PRJ	NC_000007.13 - 48085802	Apr 26, 2020 (154)
133	Siberian	NC_000007.13 - 48085802	Apr 26, 2020 (154)
134	8.3KJPN	NC_000007.13 - 48085802	Apr 27, 2021 (155)
135	14KJPN	NC_000007.14 - 48046205	Oct 14, 2022 (156)
136	TopMed	NC_000007.14 - 48046205	Apr 27, 2021 (155)
137	UK 10K study - Twins	NC_000007.13 - 48085802	Oct 12, 2018 (152)
138	A Vietnamese Genetic Variation Database	NC_000007.13 - 48085802	Jul 13, 2019 (153)
139	ALFA	NC_000007.14 - 48046205	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)
rs10378798	Feb 27, 2004 (120)
rs17660881	Oct 08, 2004 (123)
rs61576048	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81051799, ss86001098, ss86205717, ss3639350984, ss3639970238, ss3644014407	NC_000007.11:47859041:G:A	NC_000007.14:48046204:G:A	(self)
554187, ss111943583, ss116067071, ss166542901, ss203287029, ss208210225, ss254249071, ss279293833, ss285621662, ss480641556, ss1593818328, ss1712953556, ss3643632436, ss3847876295	NC_000007.12:48052326:G:A	NC_000007.14:48046204:G:A	(self)
36964571, 20614931, 8352328, 9192537, 21450862, 7886273, 521303, 9527829, 19216435, 5138718, 40977798, 20614931, 4593912, ss223058478, ss233962958, ss240919722, ss480656861, ss481501381, ss485115794, ss537118464, ss559983770, ss654342843, ss778876702, ss783004220, ss783964626, ss832261431, ss832917555, ss834337663, ss984241355, ss1074582591, ss1324999497, ss1431112280, ss1582187389, ss1618144260, ss1661138293, ss1752688296, ss1804988478, ss1927485899, ss1970692283, ss2024425750, ss2152622364, ss2626699921, ss2634603063, ss2708286024, ss2852778974, ss3001064248, ss3347568353, ss3629811798, ss3632510681, ss3633462647, ss3634187537, ss3635120697, ss3635867380, ss3636852739, ss3637620348, ss3638696545, ss3640827990, ss3734601408, ss3744567906, ss3745420749, ss3766523126, ss3772913689, ss3785808002, ss3791111067, ss3795991017, ss3830555777, ss3838766070, ss3867199455, ss3914273468, ss3985295376, ss4017335277, ss5183008491, ss5315246521, ss5373353298, ss5508943344, ss5642883730, ss5799724309, ss5822777317, ss5972098831, ss5980431821	NC_000007.13:48085801:G:A	NC_000007.14:48046204:G:A	(self)
48399689, 260562333, 3395344, 17783265, 56640670, 582240087, 12191619971, ss2293778464, ss3026007997, ss3719630079, ss3809683395, ss3844218186, ss3961405264, ss4744862528, ss5272763924, ss5469948823, ss5560873754, ss5722803566, ss5808571942, ss5855879271, ss5858778359	NC_000007.14:48046204:G:A	NC_000007.14:48046204:G:A	(self)
ss14584350	NT_007819.14:47377917:G:A	NC_000007.14:48046204:G:A	(self)
ss3828124, ss24184556, ss67268877, ss67669192, ss68210457, ss69015534, ss70747306, ss71319182, ss75879587, ss84070762, ss104425111, ss154229321, ss154743526, ss159405856, ss160571800, ss173437073, ss209088600	NT_007819.17:48075801:G:A	NC_000007.14:48046204:G:A	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs2708851

PMID	Title	Author	Year	Journal
19193627	A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.	Chiò A et al.	2009	Human molecular genetics

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

rs2708851