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dbSNP Short Genetic Variations

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.

rs1000798

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:25390071 (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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.487026 (128911/264690, TOPMED)
G=0.387524 (95424/246240, ALFA)
G=0.480149 (67071/139688, GnomAD) (+ 17 more)
T=0.44663 (35149/78698, PAGE_STUDY)
G=0.4967 (3181/6404, 1000G_30x)
G=0.4918 (2463/5008, 1000G)
G=0.3703 (1659/4480, Estonian)
G=0.3591 (1384/3854, ALSPAC)
G=0.3560 (1320/3708, TWINSUK)
G=0.3642 (1067/2930, KOREAN)
T=0.4564 (858/1880, HapMap)
G=0.362 (361/998, GoNL)
G=0.405 (320/790, PRJEB37584)
G=0.400 (240/600, NorthernSweden)
T=0.489 (261/534, MGP)
G=0.263 (109/414, SGDP_PRJ)
T=0.426 (92/216, Qatari)
G=0.44 (36/82, Ancient Sardinia)
G=0.35 (18/52, Siberian)
G=0.25 (10/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DOCK5 : 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 246332 G=0.387538 A=0.000000, T=0.612462
European Sub 220714 G=0.374331 A=0.000000, T=0.625669
African Sub 6214 G=0.7887 A=0.0000, T=0.2113
African Others Sub 256 G=0.832 A=0.000, T=0.168
African American Sub 5958 G=0.7868 A=0.0000, T=0.2132
Asian Sub 3782 G=0.3731 A=0.0000, T=0.6269
East Asian Sub 3066 G=0.3581 A=0.0000, T=0.6419
Other Asian Sub 716 G=0.437 A=0.000, T=0.563
Latin American 1 Sub 924 G=0.560 A=0.000, T=0.440
Latin American 2 Sub 6114 G=0.3839 A=0.0000, T=0.6161
South Asian Sub 280 G=0.400 A=0.000, T=0.600
Other Sub 8304 G=0.4281 A=0.0000, T=0.5719


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.487026 T=0.512974
Allele Frequency Aggregator Total Global 246240 G=0.387524 A=0.000000, T=0.612476
Allele Frequency Aggregator European Sub 220640 G=0.374320 A=0.000000, T=0.625680
Allele Frequency Aggregator Other Sub 8286 G=0.4280 A=0.0000, T=0.5720
Allele Frequency Aggregator African Sub 6214 G=0.7887 A=0.0000, T=0.2113
Allele Frequency Aggregator Latin American 2 Sub 6114 G=0.3839 A=0.0000, T=0.6161
Allele Frequency Aggregator Asian Sub 3782 G=0.3731 A=0.0000, T=0.6269
Allele Frequency Aggregator Latin American 1 Sub 924 G=0.560 A=0.000, T=0.440
Allele Frequency Aggregator South Asian Sub 280 G=0.400 A=0.000, T=0.600
gnomAD - Genomes Global Study-wide 139688 G=0.480149 T=0.519851
gnomAD - Genomes European Sub 75668 G=0.36622 T=0.63378
gnomAD - Genomes African Sub 41826 G=0.73225 T=0.26775
gnomAD - Genomes American Sub 13610 G=0.39486 T=0.60514
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.3705 T=0.6295
gnomAD - Genomes East Asian Sub 3122 G=0.3668 T=0.6332
gnomAD - Genomes Other Sub 2142 G=0.4594 T=0.5406
The PAGE Study Global Study-wide 78698 G=0.55337 T=0.44663
The PAGE Study AfricanAmerican Sub 32512 G=0.72601 T=0.27399
The PAGE Study Mexican Sub 10810 G=0.38298 T=0.61702
The PAGE Study Asian Sub 8318 G=0.3510 T=0.6490
The PAGE Study PuertoRican Sub 7918 G=0.4867 T=0.5133
The PAGE Study NativeHawaiian Sub 4534 G=0.4971 T=0.5029
The PAGE Study Cuban Sub 4230 G=0.4537 T=0.5463
The PAGE Study Dominican Sub 3828 G=0.5502 T=0.4498
The PAGE Study CentralAmerican Sub 2450 G=0.4310 T=0.5690
The PAGE Study SouthAmerican Sub 1982 G=0.3925 T=0.6075
The PAGE Study NativeAmerican Sub 1260 G=0.4516 T=0.5484
The PAGE Study SouthAsian Sub 856 G=0.408 T=0.592
1000Genomes_30x Global Study-wide 6404 G=0.4967 A=0.0003, T=0.5030
1000Genomes_30x African Sub 1786 G=0.7923 A=0.0000, T=0.2077
1000Genomes_30x Europe Sub 1266 G=0.3720 A=0.0000, T=0.6280
1000Genomes_30x South Asian Sub 1202 G=0.4135 A=0.0000, T=0.5865
1000Genomes_30x East Asian Sub 1170 G=0.3684 A=0.0017, T=0.6299
1000Genomes_30x American Sub 980 G=0.374 A=0.000, T=0.626
1000Genomes Global Study-wide 5008 G=0.4918 T=0.5082
1000Genomes African Sub 1322 G=0.7935 T=0.2065
1000Genomes East Asian Sub 1008 G=0.3700 T=0.6300
1000Genomes Europe Sub 1006 G=0.3668 T=0.6332
1000Genomes South Asian Sub 978 G=0.418 T=0.582
1000Genomes American Sub 694 G=0.379 T=0.621
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3703 T=0.6297
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3591 T=0.6409
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3560 T=0.6440
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3642 A=0.0020, C=0.0000, T=0.6338
HapMap Global Study-wide 1880 G=0.5436 T=0.4564
HapMap American Sub 768 G=0.444 T=0.556
HapMap African Sub 684 G=0.768 T=0.232
HapMap Asian Sub 252 G=0.357 T=0.643
HapMap Europe Sub 176 G=0.375 T=0.625
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.362 T=0.638
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.405 T=0.595
CNV burdens in cranial meningiomas CRM Sub 790 G=0.405 T=0.595
Northern Sweden ACPOP Study-wide 600 G=0.400 T=0.600
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.511 T=0.489
SGDP_PRJ Global Study-wide 414 G=0.263 T=0.737
Qatari Global Study-wide 216 G=0.574 T=0.426
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 G=0.44 T=0.56
Siberian Global Study-wide 52 G=0.35 T=0.65
The Danish reference pan genome Danish Study-wide 40 G=0.25 T=0.75
Help

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 8 NC_000008.11:g.25390071G>A
GRCh38.p14 chr 8 NC_000008.11:g.25390071G>C
GRCh38.p14 chr 8 NC_000008.11:g.25390071G>T
GRCh37.p13 chr 8 NC_000008.10:g.25247587G>A
GRCh37.p13 chr 8 NC_000008.10:g.25247587G>C
GRCh37.p13 chr 8 NC_000008.10:g.25247587G>T
DOCK5 RefSeqGene NG_051765.1:g.210300G>A
DOCK5 RefSeqGene NG_051765.1:g.210300G>C
DOCK5 RefSeqGene NG_051765.1:g.210300G>T
Gene: DOCK5, dedicator of cytokinesis 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DOCK5 transcript variant 1 NM_024940.8:c.4274-135G>A N/A Intron Variant
DOCK5 transcript variant 2 NM_001322810.2:c. N/A Genic Downstream Transcript Variant
Help

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
Help

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 C T
GRCh38.p14 chr 8 NC_000008.11:g.25390071= NC_000008.11:g.25390071G>A NC_000008.11:g.25390071G>C NC_000008.11:g.25390071G>T
GRCh37.p13 chr 8 NC_000008.10:g.25247587= NC_000008.10:g.25247587G>A NC_000008.10:g.25247587G>C NC_000008.10:g.25247587G>T
DOCK5 RefSeqGene NG_051765.1:g.210300= NG_051765.1:g.210300G>A NG_051765.1:g.210300G>C NG_051765.1:g.210300G>T
DOCK5 transcript NM_024940.6:c.4274-135= NM_024940.6:c.4274-135G>A NM_024940.6:c.4274-135G>C NM_024940.6:c.4274-135G>T
DOCK5 transcript variant 1 NM_024940.8:c.4274-135= NM_024940.8:c.4274-135G>A NM_024940.8:c.4274-135G>C NM_024940.8:c.4274-135G>T
DOCK5 transcript variant X1 XM_005273650.1:c.4274-135= XM_005273650.1:c.4274-135G>A XM_005273650.1:c.4274-135G>C XM_005273650.1:c.4274-135G>T
Help

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#.

137 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1460776 Oct 05, 2000 (86)
2 SC_JCM ss4144844 Nov 05, 2001 (101)
3 TSC-CSHL ss5154749 Oct 08, 2002 (108)
4 WI_SSAHASNP ss6732480 Feb 20, 2003 (111)
5 SSAHASNP ss22665098 Apr 05, 2004 (121)
6 PERLEGEN ss24053143 Sep 20, 2004 (123)
7 ILLUMINA ss65714006 Oct 13, 2006 (127)
8 ILLUMINA ss74973564 Dec 06, 2007 (129)
9 HGSV ss83287534 Dec 15, 2007 (130)
10 HGSV ss83587284 Dec 15, 2007 (130)
11 BCMHGSC_JDW ss93857827 Mar 25, 2008 (129)
12 HUMANGENOME_JCVI ss97860875 Feb 06, 2009 (130)
13 BGI ss104516300 Dec 01, 2009 (131)
14 1000GENOMES ss112924342 Jan 25, 2009 (130)
15 1000GENOMES ss115159733 Jan 25, 2009 (130)
16 KRIBB_YJKIM ss119377511 Dec 01, 2009 (131)
17 ENSEMBL ss134446087 Dec 01, 2009 (131)
18 ENSEMBL ss143346030 Dec 01, 2009 (131)
19 GMI ss156164307 Dec 01, 2009 (131)
20 ILLUMINA ss159850972 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss162257259 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss164221077 Jul 04, 2010 (132)
23 ILLUMINA ss169498433 Jul 04, 2010 (132)
24 BUSHMAN ss198941352 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss206505458 Jul 04, 2010 (132)
26 1000GENOMES ss223610623 Jul 14, 2010 (132)
27 1000GENOMES ss234370124 Jul 15, 2010 (132)
28 1000GENOMES ss241241078 Jul 15, 2010 (132)
29 BL ss254201638 May 09, 2011 (134)
30 GMI ss279740172 May 04, 2012 (137)
31 GMI ss285815165 Apr 25, 2013 (138)
32 PJP ss294242477 May 09, 2011 (134)
33 ILLUMINA ss479154577 May 04, 2012 (137)
34 ILLUMINA ss479156265 May 04, 2012 (137)
35 ILLUMINA ss479470514 Sep 08, 2015 (146)
36 ILLUMINA ss484378504 May 04, 2012 (137)
37 ILLUMINA ss536564740 Sep 08, 2015 (146)
38 TISHKOFF ss560630493 Apr 25, 2013 (138)
39 SSMP ss655065107 Apr 25, 2013 (138)
40 ILLUMINA ss778343684 Sep 08, 2015 (146)
41 ILLUMINA ss782635536 Sep 08, 2015 (146)
42 ILLUMINA ss783605083 Sep 08, 2015 (146)
43 ILLUMINA ss831885617 Sep 08, 2015 (146)
44 ILLUMINA ss833798319 Sep 08, 2015 (146)
45 EVA-GONL ss985318381 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1075374844 Aug 21, 2014 (142)
47 1000GENOMES ss1329091710 Aug 21, 2014 (142)
48 DDI ss1431455409 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1582611673 Apr 01, 2015 (144)
50 EVA_DECODE ss1594910863 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1620229322 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1663223355 Apr 01, 2015 (144)
53 EVA_MGP ss1711196549 Apr 01, 2015 (144)
54 EVA_SVP ss1713024643 Apr 01, 2015 (144)
55 ILLUMINA ss1752726064 Sep 08, 2015 (146)
56 HAMMER_LAB ss1805453862 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1928608388 Feb 12, 2016 (147)
58 ILLUMINA ss1946232896 Feb 12, 2016 (147)
59 ILLUMINA ss1959098507 Feb 12, 2016 (147)
60 GENOMED ss1970940335 Jul 19, 2016 (147)
61 JJLAB ss2025005228 Sep 14, 2016 (149)
62 USC_VALOUEV ss2153227014 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2301655765 Dec 20, 2016 (150)
64 SYSTEMSBIOZJU ss2626986536 Nov 08, 2017 (151)
65 ILLUMINA ss2634727033 Nov 08, 2017 (151)
66 GRF ss2708988632 Nov 08, 2017 (151)
67 ILLUMINA ss2711133869 Nov 08, 2017 (151)
68 GNOMAD ss2864580693 Nov 08, 2017 (151)
69 AFFY ss2986077836 Nov 08, 2017 (151)
70 SWEGEN ss3002872884 Nov 08, 2017 (151)
71 ILLUMINA ss3022831076 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3026293184 Nov 08, 2017 (151)
73 CSHL ss3348100985 Nov 08, 2017 (151)
74 ILLUMINA ss3625948221 Oct 12, 2018 (152)
75 ILLUMINA ss3630024594 Oct 12, 2018 (152)
76 ILLUMINA ss3632627211 Oct 12, 2018 (152)
77 ILLUMINA ss3633495420 Oct 12, 2018 (152)
78 ILLUMINA ss3634221960 Oct 12, 2018 (152)
79 ILLUMINA ss3635164624 Oct 12, 2018 (152)
80 ILLUMINA ss3635900879 Oct 12, 2018 (152)
81 ILLUMINA ss3636901638 Oct 12, 2018 (152)
82 ILLUMINA ss3637654034 Oct 12, 2018 (152)
83 ILLUMINA ss3638750980 Oct 12, 2018 (152)
84 ILLUMINA ss3640871914 Oct 12, 2018 (152)
85 ILLUMINA ss3643682550 Oct 12, 2018 (152)
86 ILLUMINA ss3644966073 Oct 12, 2018 (152)
87 URBANLAB ss3648877521 Oct 12, 2018 (152)
88 ILLUMINA ss3653372256 Oct 12, 2018 (152)
89 ILLUMINA ss3654196545 Oct 12, 2018 (152)
90 EGCUT_WGS ss3670556476 Jul 13, 2019 (153)
91 EVA_DECODE ss3721644355 Jul 13, 2019 (153)
92 ILLUMINA ss3726524789 Jul 13, 2019 (153)
93 ACPOP ss3735504840 Jul 13, 2019 (153)
94 ILLUMINA ss3744303565 Jul 13, 2019 (153)
95 ILLUMINA ss3745464389 Jul 13, 2019 (153)
96 EVA ss3767773201 Jul 13, 2019 (153)
97 PAGE_CC ss3771432251 Jul 13, 2019 (153)
98 ILLUMINA ss3772956962 Jul 13, 2019 (153)
99 PACBIO ss3786098214 Jul 13, 2019 (153)
100 PACBIO ss3791363068 Jul 13, 2019 (153)
101 PACBIO ss3796244275 Jul 13, 2019 (153)
102 KHV_HUMAN_GENOMES ss3810935589 Jul 13, 2019 (153)
103 EVA ss3831076912 Apr 26, 2020 (154)
104 EVA ss3839047804 Apr 26, 2020 (154)
105 EVA ss3844505989 Apr 26, 2020 (154)
106 SGDP_PRJ ss3869529679 Apr 26, 2020 (154)
107 KRGDB ss3916961938 Apr 26, 2020 (154)
108 KOGIC ss3963491381 Apr 26, 2020 (154)
109 KOGIC ss3963491382 Apr 26, 2020 (154)
110 FSA-LAB ss3984395646 Apr 26, 2021 (155)
111 EVA ss3984603036 Apr 26, 2021 (155)
112 EVA ss3985350234 Apr 26, 2021 (155)
113 TOPMED ss4779566609 Apr 26, 2021 (155)
114 TOMMO_GENOMICS ss5187846634 Apr 26, 2021 (155)
115 TOMMO_GENOMICS ss5187846635 Apr 26, 2021 (155)
116 1000G_HIGH_COVERAGE ss5276484409 Oct 13, 2022 (156)
117 1000G_HIGH_COVERAGE ss5276484410 Oct 13, 2022 (156)
118 EVA ss5315320875 Oct 13, 2022 (156)
119 EVA ss5379928389 Oct 13, 2022 (156)
120 HUGCELL_USP ss5473120421 Oct 13, 2022 (156)
121 EVA ss5509288764 Oct 13, 2022 (156)
122 1000G_HIGH_COVERAGE ss5566483749 Oct 13, 2022 (156)
123 SANFORD_IMAGENETICS ss5624689456 Oct 13, 2022 (156)
124 SANFORD_IMAGENETICS ss5645012348 Oct 13, 2022 (156)
125 TOMMO_GENOMICS ss5729520568 Oct 13, 2022 (156)
126 TOMMO_GENOMICS ss5729520569 Oct 13, 2022 (156)
127 EVA ss5799751732 Oct 13, 2022 (156)
128 EVA ss5800146165 Oct 13, 2022 (156)
129 YY_MCH ss5809553729 Oct 13, 2022 (156)
130 EVA ss5830283514 Oct 13, 2022 (156)
131 EVA ss5847336307 Oct 13, 2022 (156)
132 EVA ss5848171408 Oct 13, 2022 (156)
133 EVA ss5856305279 Oct 13, 2022 (156)
134 EVA ss5888201491 Oct 13, 2022 (156)
135 EVA ss5974196593 Oct 13, 2022 (156)
136 EVA ss5979858161 Oct 13, 2022 (156)
137 EVA ss5980495307 Oct 13, 2022 (156)
138 1000Genomes NC_000008.10 - 25247587 Oct 12, 2018 (152)
139 1000Genomes_30x NC_000008.11 - 25390071 Oct 13, 2022 (156)
140 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 25247587 Oct 12, 2018 (152)
141 Genetic variation in the Estonian population NC_000008.10 - 25247587 Oct 12, 2018 (152)
142 The Danish reference pan genome NC_000008.10 - 25247587 Apr 26, 2020 (154)
143 gnomAD - Genomes NC_000008.11 - 25390071 Apr 26, 2021 (155)
144 Genome of the Netherlands Release 5 NC_000008.10 - 25247587 Apr 26, 2020 (154)
145 HapMap NC_000008.11 - 25390071 Apr 26, 2020 (154)
146 KOREAN population from KRGDB NC_000008.10 - 25247587 Apr 26, 2020 (154)
147 Korean Genome Project

Submission ignored due to conflicting rows:
Row 19869382 (NC_000008.11:25390070:G:T 1177/1832)
Row 19869383 (NC_000008.11:25390070:G:A 1/1832)

- Apr 26, 2020 (154)
148 Korean Genome Project

Submission ignored due to conflicting rows:
Row 19869382 (NC_000008.11:25390070:G:T 1177/1832)
Row 19869383 (NC_000008.11:25390070:G:A 1/1832)

- Apr 26, 2020 (154)
149 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 25247587 Apr 26, 2020 (154)
150 Northern Sweden NC_000008.10 - 25247587 Jul 13, 2019 (153)
151 The PAGE Study NC_000008.11 - 25390071 Jul 13, 2019 (153)
152 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 25247587 Apr 26, 2021 (155)
153 CNV burdens in cranial meningiomas NC_000008.10 - 25247587 Apr 26, 2021 (155)
154 Qatari NC_000008.10 - 25247587 Apr 26, 2020 (154)
155 SGDP_PRJ NC_000008.10 - 25247587 Apr 26, 2020 (154)
156 Siberian NC_000008.10 - 25247587 Apr 26, 2020 (154)
157 8.3KJPN

Submission ignored due to conflicting rows:
Row 45815941 (NC_000008.10:25247586:G:T 10959/16760)
Row 45815942 (NC_000008.10:25247586:G:A 43/16760)

- Apr 26, 2021 (155)
158 8.3KJPN

Submission ignored due to conflicting rows:
Row 45815941 (NC_000008.10:25247586:G:T 10959/16760)
Row 45815942 (NC_000008.10:25247586:G:A 43/16760)

- Apr 26, 2021 (155)
159 14KJPN

Submission ignored due to conflicting rows:
Row 63357672 (NC_000008.11:25390070:G:T 18486/28258)
Row 63357673 (NC_000008.11:25390070:G:A 68/28258)

- Oct 13, 2022 (156)
160 14KJPN

Submission ignored due to conflicting rows:
Row 63357672 (NC_000008.11:25390070:G:T 18486/28258)
Row 63357673 (NC_000008.11:25390070:G:A 68/28258)

- Oct 13, 2022 (156)
161 TopMed NC_000008.11 - 25390071 Apr 26, 2021 (155)
162 UK 10K study - Twins NC_000008.10 - 25247587 Oct 12, 2018 (152)
163 ALFA NC_000008.11 - 25390071 Apr 26, 2021 (155)
Help

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)
rs17053561 Oct 08, 2004 (123)
rs60485572 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
24139332, ss2864580693, ss3916961938, ss5187846635 NC_000008.10:25247586:G:A NC_000008.11:25390070:G:A (self)
54009684, 14911495642, ss2301655765, ss3963491382, ss5276484410, ss5566483749, ss5729520569 NC_000008.11:25390070:G:A NC_000008.11:25390070:G:A (self)
24139332, ss3916961938 NC_000008.10:25247586:G:C NC_000008.11:25390070:G:C (self)
ss83287534, ss83587284, ss93857827, ss112924342, ss115159733, ss162257259, ss164221077, ss198941352, ss206505458, ss254201638, ss279740172, ss285815165, ss294242477, ss479154577, ss1594910863, ss1713024643, ss3643682550 NC_000008.9:25303503:G:T NC_000008.11:25390070:G:T (self)
41191806, 22900903, 16294724, 8776611, 10231533, 24139332, 312309, 8789705, 576161, 152472, 10650318, 21546659, 5743368, 22900903, ss223610623, ss234370124, ss241241078, ss479156265, ss479470514, ss484378504, ss536564740, ss560630493, ss655065107, ss778343684, ss782635536, ss783605083, ss831885617, ss833798319, ss985318381, ss1075374844, ss1329091710, ss1431455409, ss1582611673, ss1620229322, ss1663223355, ss1711196549, ss1752726064, ss1805453862, ss1928608388, ss1946232896, ss1959098507, ss1970940335, ss2025005228, ss2153227014, ss2626986536, ss2634727033, ss2708988632, ss2711133869, ss2864580693, ss2986077836, ss3002872884, ss3022831076, ss3348100985, ss3625948221, ss3630024594, ss3632627211, ss3633495420, ss3634221960, ss3635164624, ss3635900879, ss3636901638, ss3637654034, ss3638750980, ss3640871914, ss3644966073, ss3653372256, ss3654196545, ss3670556476, ss3735504840, ss3744303565, ss3745464389, ss3767773201, ss3772956962, ss3786098214, ss3791363068, ss3796244275, ss3831076912, ss3839047804, ss3869529679, ss3916961938, ss3984395646, ss3984603036, ss3985350234, ss5187846634, ss5315320875, ss5379928389, ss5509288764, ss5624689456, ss5645012348, ss5799751732, ss5800146165, ss5830283514, ss5847336307, ss5848171408, ss5974196593, ss5979858161, ss5980495307 NC_000008.10:25247586:G:T NC_000008.11:25390070:G:T (self)
54009684, 290444221, 3589459, 653720, 616944169, 14911495642, ss2301655765, ss3026293184, ss3648877521, ss3721644355, ss3726524789, ss3771432251, ss3810935589, ss3844505989, ss3963491381, ss4779566609, ss5276484409, ss5473120421, ss5566483749, ss5729520568, ss5809553729, ss5856305279, ss5888201491 NC_000008.11:25390070:G:T NC_000008.11:25390070:G:T (self)
ss22665098 NT_023666.16:3621871:G:T NC_000008.11:25390070:G:T (self)
ss1460776, ss4144844, ss5154749, ss6732480, ss24053143, ss65714006, ss74973564, ss97860875, ss104516300, ss119377511, ss134446087, ss143346030, ss156164307, ss159850972, ss169498433 NT_167187.1:13105732:G:T NC_000008.11:25390070:G:T (self)
Help

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

No publications for rs1000798

Help

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.

Software version is: 2.0.1.post761+d5e8e07