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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.

rs1970168

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:232625370 (GRCh38.p13) 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
G=0.463742 (122748/264690, TOPMED)
A=0.492507 (121601/246902, ALFA)
G=0.459998 (64373/139942, GnomAD) (+ 20 more)
G=0.44453 (34973/78674, PAGE_STUDY)
A=0.35758 (5993/16760, 8.3KJPN)
G=0.4553 (2280/5008, 1000G)
G=0.4366 (1956/4480, Estonian)
A=0.4857 (1872/3854, ALSPAC)
A=0.4790 (1776/3708, TWINSUK)
A=0.3266 (957/2930, KOREAN)
G=0.4827 (1006/2084, HGDP_Stanford)
A=0.3575 (655/1832, Korea1K)
G=0.4453 (717/1610, HapMap)
A=0.4377 (492/1124, Daghestan)
A=0.478 (477/998, GoNL)
A=0.345 (272/788, PRJEB37584)
A=0.483 (290/600, NorthernSweden)
G=0.336 (145/432, SGDP_PRJ)
G=0.468 (101/216, Qatari)
A=0.388 (83/214, Vietnamese)
G=0.40 (16/40, GENOME_DK)
G=0.38 (15/40, Siberian)
A=0.44 (14/32, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SIPA1L2 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.232625370G>A
GRCh37.p13 chr 1 NC_000001.10:g.232761116G>A
Gene: SIPA1L2, signal induced proliferation associated 1 like 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SIPA1L2 transcript variant 2 NM_001377488.1:c.-319+506…

NM_001377488.1:c.-319+5060C>T

N/A Intron Variant
SIPA1L2 transcript variant 1 NM_020808.5:c.-319+4499C>T N/A Intron Variant
SIPA1L2 transcript variant X4 XM_005273212.4:c.-347+449…

XM_005273212.4:c.-347+4499C>T

N/A Intron Variant
SIPA1L2 transcript variant X5 XM_005273213.4:c.-270+449…

XM_005273213.4:c.-270+4499C>T

N/A Intron Variant
SIPA1L2 transcript variant X2 XM_011544243.2:c.-396+449…

XM_011544243.2:c.-396+4499C>T

N/A Intron Variant
SIPA1L2 transcript variant X3 XM_017001896.1:c.-319+506…

XM_017001896.1:c.-319+5060C>T

N/A Intron Variant
SIPA1L2 transcript variant X6 XM_017001897.2:c.-319+449…

XM_017001897.2:c.-319+4499C>T

N/A Intron 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 246902 G=0.507493 A=0.492507
European Sub 211360 G=0.518338 A=0.481662
African Sub 10878 G=0.35935 A=0.64065
African Others Sub 362 G=0.309 A=0.691
African American Sub 10516 G=0.36107 A=0.63893
Asian Sub 828 G=0.620 A=0.380
East Asian Sub 652 G=0.637 A=0.363
Other Asian Sub 176 G=0.557 A=0.443
Latin American 1 Sub 990 G=0.501 A=0.499
Latin American 2 Sub 9018 G=0.4718 A=0.5282
South Asian Sub 5056 G=0.4237 A=0.5763
Other Sub 8772 G=0.5050 A=0.4950


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=0.463742 A=0.536258
gnomAD - Genomes Global Study-wide 139942 G=0.459998 A=0.540002
gnomAD - Genomes European Sub 75816 G=0.50028 A=0.49972
gnomAD - Genomes African Sub 41912 G=0.35431 A=0.64569
gnomAD - Genomes American Sub 13622 G=0.49464 A=0.50536
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.5578 A=0.4422
gnomAD - Genomes East Asian Sub 3120 G=0.6343 A=0.3657
gnomAD - Genomes Other Sub 2150 G=0.4763 A=0.5237
The PAGE Study Global Study-wide 78674 G=0.44453 A=0.55547
The PAGE Study AfricanAmerican Sub 32504 G=0.35586 A=0.64414
The PAGE Study Mexican Sub 10804 G=0.48787 A=0.51213
The PAGE Study Asian Sub 8318 G=0.6556 A=0.3444
The PAGE Study PuertoRican Sub 7912 G=0.4254 A=0.5746
The PAGE Study NativeHawaiian Sub 4532 G=0.5799 A=0.4201
The PAGE Study Cuban Sub 4228 G=0.5211 A=0.4789
The PAGE Study Dominican Sub 3828 G=0.4172 A=0.5828
The PAGE Study CentralAmerican Sub 2450 G=0.4404 A=0.5596
The PAGE Study SouthAmerican Sub 1982 G=0.4384 A=0.5616
The PAGE Study NativeAmerican Sub 1260 G=0.4913 A=0.5087
The PAGE Study SouthAsian Sub 856 G=0.375 A=0.625
8.3KJPN JAPANESE Study-wide 16760 G=0.64242 A=0.35758
1000Genomes Global Study-wide 5008 G=0.4553 A=0.5447
1000Genomes African Sub 1322 G=0.3169 A=0.6831
1000Genomes East Asian Sub 1008 G=0.6419 A=0.3581
1000Genomes Europe Sub 1006 G=0.5467 A=0.4533
1000Genomes South Asian Sub 978 G=0.348 A=0.652
1000Genomes American Sub 694 G=0.467 A=0.533
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4366 A=0.5634
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5143 A=0.4857
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5210 A=0.4790
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6734 A=0.3266
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.4827 A=0.5173
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.615 A=0.385
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.498 A=0.502
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.534 A=0.466
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.509 A=0.491
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.343 A=0.657
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.250 A=0.750
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.33 A=0.67
Korean Genome Project KOREAN Study-wide 1832 G=0.6425 A=0.3575
HapMap Global Study-wide 1610 G=0.4453 A=0.5547
HapMap African Sub 690 G=0.343 A=0.657
HapMap American Sub 494 G=0.423 A=0.577
HapMap Asian Sub 250 G=0.692 A=0.308
HapMap Europe Sub 176 G=0.557 A=0.443
Genome-wide autozygosity in Daghestan Global Study-wide 1124 G=0.5623 A=0.4377
Genome-wide autozygosity in Daghestan Daghestan Sub 624 G=0.591 A=0.409
Genome-wide autozygosity in Daghestan Near_East Sub 138 G=0.529 A=0.471
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.615 A=0.385
Genome-wide autozygosity in Daghestan Europe Sub 106 G=0.547 A=0.453
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.37 A=0.63
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.58 A=0.42
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.522 A=0.478
CNV burdens in cranial meningiomas Global Study-wide 788 G=0.655 A=0.345
CNV burdens in cranial meningiomas CRM Sub 788 G=0.655 A=0.345
Northern Sweden ACPOP Study-wide 600 G=0.517 A=0.483
SGDP_PRJ Global Study-wide 432 G=0.336 A=0.664
Qatari Global Study-wide 216 G=0.468 A=0.532
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.612 A=0.388
The Danish reference pan genome Danish Study-wide 40 G=0.40 A=0.60
Siberian Global Study-wide 40 G=0.38 A=0.62
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 32 G=0.56 A=0.44
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
GRCh38.p13 chr 1 NC_000001.11:g.232625370= NC_000001.11:g.232625370G>A
GRCh37.p13 chr 1 NC_000001.10:g.232761116= NC_000001.10:g.232761116G>A
SIPA1L2 transcript variant 2 NM_001377488.1:c.-319+5060= NM_001377488.1:c.-319+5060C>T
SIPA1L2 transcript variant 1 NM_020808.5:c.-319+4499= NM_020808.5:c.-319+4499C>T
SIPA1L2 transcript variant X4 XM_005273211.1:c.-319+4499= XM_005273211.1:c.-319+4499C>T
SIPA1L2 transcript variant X4 XM_005273212.1:c.-347+4499= XM_005273212.1:c.-347+4499C>T
SIPA1L2 transcript variant X4 XM_005273212.4:c.-347+4499= XM_005273212.4:c.-347+4499C>T
SIPA1L2 transcript variant X5 XM_005273213.1:c.-270+4499= XM_005273213.1:c.-270+4499C>T
SIPA1L2 transcript variant X5 XM_005273213.4:c.-270+4499= XM_005273213.4:c.-270+4499C>T
SIPA1L2 transcript variant X2 XM_011544243.2:c.-396+4499= XM_011544243.2:c.-396+4499C>T
SIPA1L2 transcript variant X3 XM_017001896.1:c.-319+5060= XM_017001896.1:c.-319+5060C>T
SIPA1L2 transcript variant X6 XM_017001897.2:c.-319+4499= XM_017001897.2:c.-319+4499C>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#.

128 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2874205 Jan 12, 2001 (92)
2 WI_SSAHASNP ss11360914 Jul 11, 2003 (116)
3 PERLEGEN ss24310038 Sep 20, 2004 (123)
4 ABI ss44031265 Mar 14, 2006 (126)
5 ILLUMINA ss65717283 Oct 16, 2006 (127)
6 AFFY ss65983228 Dec 01, 2006 (127)
7 ILLUMINA ss66740251 Dec 01, 2006 (127)
8 ILLUMINA ss67211394 Dec 01, 2006 (127)
9 ILLUMINA ss67604567 Dec 01, 2006 (127)
10 CSHL-HAPMAP ss68391608 Jan 12, 2007 (127)
11 PERLEGEN ss68796526 May 17, 2007 (127)
12 ILLUMINA ss70689652 May 24, 2008 (130)
13 ILLUMINA ss71254438 May 17, 2007 (127)
14 ILLUMINA ss75733727 Dec 07, 2007 (129)
15 AFFY ss76808763 Dec 07, 2007 (129)
16 ILLUMINA ss79104545 Dec 15, 2007 (130)
17 KRIBB_YJKIM ss83932849 Dec 15, 2007 (130)
18 BCMHGSC_JDW ss88008911 Mar 23, 2008 (129)
19 BGI ss102832086 Dec 01, 2009 (131)
20 1000GENOMES ss109032751 Jan 23, 2009 (130)
21 1000GENOMES ss111936283 Jan 25, 2009 (130)
22 ILLUMINA ss120244575 Dec 01, 2009 (131)
23 ILLUMINA ss121868795 Dec 01, 2009 (131)
24 ENSEMBL ss138173166 Dec 01, 2009 (131)
25 ILLUMINA ss153798646 Dec 01, 2009 (131)
26 GMI ss156418600 Dec 01, 2009 (131)
27 ILLUMINA ss159344828 Dec 01, 2009 (131)
28 ILLUMINA ss160482712 Dec 01, 2009 (131)
29 COMPLETE_GENOMICS ss165401597 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss165896332 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss167563065 Jul 04, 2010 (132)
32 ILLUMINA ss170915119 Jul 04, 2010 (132)
33 ILLUMINA ss173017490 Jul 04, 2010 (132)
34 BUSHMAN ss199748922 Jul 04, 2010 (132)
35 BCM-HGSC-SUB ss205093040 Jul 04, 2010 (132)
36 1000GENOMES ss218941630 Jul 14, 2010 (132)
37 1000GENOMES ss230946664 Jul 14, 2010 (132)
38 1000GENOMES ss238552344 Jul 15, 2010 (132)
39 ILLUMINA ss244255569 Jul 04, 2010 (132)
40 BL ss253890312 May 09, 2011 (134)
41 GMI ss276261879 May 04, 2012 (137)
42 GMI ss284247654 Apr 25, 2013 (138)
43 PJP ss290756280 May 09, 2011 (134)
44 ILLUMINA ss480363225 May 04, 2012 (137)
45 ILLUMINA ss480375350 May 04, 2012 (137)
46 ILLUMINA ss481146222 Sep 08, 2015 (146)
47 ILLUMINA ss484979195 May 04, 2012 (137)
48 ILLUMINA ss537016132 Sep 08, 2015 (146)
49 TISHKOFF ss555209615 Apr 25, 2013 (138)
50 SSMP ss648782701 Apr 25, 2013 (138)
51 ILLUMINA ss778474571 Sep 08, 2015 (146)
52 ILLUMINA ss782935900 Sep 08, 2015 (146)
53 ILLUMINA ss783898614 Sep 08, 2015 (146)
54 ILLUMINA ss825435063 Apr 01, 2015 (144)
55 ILLUMINA ss832191418 Sep 08, 2015 (146)
56 ILLUMINA ss832856783 Jul 12, 2019 (153)
57 ILLUMINA ss833930381 Sep 08, 2015 (146)
58 EVA-GONL ss976261389 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1068689830 Aug 21, 2014 (142)
60 1000GENOMES ss1295090061 Aug 21, 2014 (142)
61 HAMMER_LAB ss1397275674 Sep 08, 2015 (146)
62 DDI ss1426144959 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1574752965 Apr 01, 2015 (144)
64 EVA_DECODE ss1585661318 Apr 01, 2015 (144)
65 EVA_UK10K_ALSPAC ss1602374473 Apr 01, 2015 (144)
66 EVA_UK10K_TWINSUK ss1645368506 Apr 01, 2015 (144)
67 EVA_SVP ss1712414204 Apr 01, 2015 (144)
68 ILLUMINA ss1751905307 Sep 08, 2015 (146)
69 HAMMER_LAB ss1795884752 Sep 08, 2015 (146)
70 WEILL_CORNELL_DGM ss1919482513 Feb 12, 2016 (147)
71 ILLUMINA ss1946026781 Feb 12, 2016 (147)
72 ILLUMINA ss1958367541 Feb 12, 2016 (147)
73 GENOMED ss1967000435 Jul 19, 2016 (147)
74 JJLAB ss2020266629 Sep 14, 2016 (149)
75 USC_VALOUEV ss2148302694 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2170993065 Dec 20, 2016 (150)
77 TOPMED ss2333643288 Dec 20, 2016 (150)
78 SYSTEMSBIOZJU ss2624645716 Nov 08, 2017 (151)
79 ILLUMINA ss2632643798 Nov 08, 2017 (151)
80 GRF ss2698303651 Nov 08, 2017 (151)
81 ILLUMINA ss2710697163 Nov 08, 2017 (151)
82 GNOMAD ss2767462342 Nov 08, 2017 (151)
83 SWEGEN ss2988631490 Nov 08, 2017 (151)
84 ILLUMINA ss3021191647 Nov 08, 2017 (151)
85 BIOINF_KMB_FNS_UNIBA ss3023894258 Nov 08, 2017 (151)
86 TOPMED ss3106246931 Nov 08, 2017 (151)
87 CSHL ss3343963469 Nov 08, 2017 (151)
88 ILLUMINA ss3625569003 Oct 11, 2018 (152)
89 ILLUMINA ss3626334406 Oct 11, 2018 (152)
90 ILLUMINA ss3630672902 Oct 11, 2018 (152)
91 ILLUMINA ss3632929694 Oct 11, 2018 (152)
92 ILLUMINA ss3633625954 Oct 11, 2018 (152)
93 ILLUMINA ss3634378888 Oct 11, 2018 (152)
94 ILLUMINA ss3635318955 Oct 11, 2018 (152)
95 ILLUMINA ss3636057860 Oct 11, 2018 (152)
96 ILLUMINA ss3637069508 Oct 11, 2018 (152)
97 ILLUMINA ss3637820707 Oct 11, 2018 (152)
98 ILLUMINA ss3638925398 Oct 11, 2018 (152)
99 ILLUMINA ss3639461719 Oct 11, 2018 (152)
100 ILLUMINA ss3640086241 Oct 11, 2018 (152)
101 ILLUMINA ss3642826593 Oct 11, 2018 (152)
102 ILLUMINA ss3644522788 Oct 11, 2018 (152)
103 ILLUMINA ss3651537367 Oct 11, 2018 (152)
104 EGCUT_WGS ss3656590643 Jul 12, 2019 (153)
105 EVA_DECODE ss3688846246 Jul 12, 2019 (153)
106 ILLUMINA ss3725115853 Jul 12, 2019 (153)
107 ACPOP ss3727958202 Jul 12, 2019 (153)
108 ILLUMINA ss3744062492 Jul 12, 2019 (153)
109 ILLUMINA ss3744679791 Jul 12, 2019 (153)
110 EVA ss3747475024 Jul 12, 2019 (153)
111 PAGE_CC ss3770879956 Jul 12, 2019 (153)
112 ILLUMINA ss3772180590 Jul 12, 2019 (153)
113 PACBIO ss3783717181 Jul 12, 2019 (153)
114 PACBIO ss3789324526 Jul 12, 2019 (153)
115 PACBIO ss3794196945 Jul 12, 2019 (153)
116 KHV_HUMAN_GENOMES ss3800476790 Jul 12, 2019 (153)
117 EVA ss3826701316 Apr 25, 2020 (154)
118 EVA ss3836752505 Apr 25, 2020 (154)
119 EVA ss3842165015 Apr 25, 2020 (154)
120 HGDP ss3847367134 Apr 25, 2020 (154)
121 SGDP_PRJ ss3851127049 Apr 25, 2020 (154)
122 KRGDB ss3896476196 Apr 25, 2020 (154)
123 KOGIC ss3946721448 Apr 25, 2020 (154)
124 EVA ss3984473933 Apr 25, 2021 (155)
125 EVA ss3984859194 Apr 25, 2021 (155)
126 EVA ss4016968316 Apr 25, 2021 (155)
127 TOPMED ss4487426028 Apr 25, 2021 (155)
128 TOMMO_GENOMICS ss5148936598 Apr 25, 2021 (155)
129 1000Genomes NC_000001.10 - 232761116 Oct 11, 2018 (152)
130 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 232761116 Oct 11, 2018 (152)
131 Genome-wide autozygosity in Daghestan NC_000001.9 - 230827739 Apr 25, 2020 (154)
132 Genetic variation in the Estonian population NC_000001.10 - 232761116 Oct 11, 2018 (152)
133 The Danish reference pan genome NC_000001.10 - 232761116 Apr 25, 2020 (154)
134 gnomAD - Genomes NC_000001.11 - 232625370 Apr 25, 2021 (155)
135 Genome of the Netherlands Release 5 NC_000001.10 - 232761116 Apr 25, 2020 (154)
136 HGDP-CEPH-db Supplement 1 NC_000001.9 - 230827739 Apr 25, 2020 (154)
137 HapMap NC_000001.11 - 232625370 Apr 25, 2020 (154)
138 KOREAN population from KRGDB NC_000001.10 - 232761116 Apr 25, 2020 (154)
139 Korean Genome Project NC_000001.11 - 232625370 Apr 25, 2020 (154)
140 Northern Sweden NC_000001.10 - 232761116 Jul 12, 2019 (153)
141 The PAGE Study NC_000001.11 - 232625370 Jul 12, 2019 (153)
142 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 232761116 Apr 25, 2021 (155)
143 CNV burdens in cranial meningiomas NC_000001.10 - 232761116 Apr 25, 2021 (155)
144 Qatari NC_000001.10 - 232761116 Apr 25, 2020 (154)
145 SGDP_PRJ NC_000001.10 - 232761116 Apr 25, 2020 (154)
146 Siberian NC_000001.10 - 232761116 Apr 25, 2020 (154)
147 8.3KJPN NC_000001.10 - 232761116 Apr 25, 2021 (155)
148 TopMed NC_000001.11 - 232625370 Apr 25, 2021 (155)
149 UK 10K study - Twins NC_000001.10 - 232761116 Oct 11, 2018 (152)
150 A Vietnamese Genetic Variation Database NC_000001.10 - 232761116 Jul 12, 2019 (153)
151 ALFA NC_000001.11 - 232625370 Apr 25, 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)
rs17806534 Oct 07, 2004 (123)
rs58772473 May 24, 2008 (130)
rs386550772 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638925398, ss3639461719 NC_000001.8:229067850:G:A NC_000001.11:232625369:G:A (self)
36770, 45026, ss76808763, ss88008911, ss109032751, ss111936283, ss165401597, ss165896332, ss167563065, ss199748922, ss205093040, ss253890312, ss276261879, ss284247654, ss290756280, ss480363225, ss825435063, ss1397275674, ss1585661318, ss1712414204, ss3642826593, ss3847367134 NC_000001.9:230827738:G:A NC_000001.11:232625369:G:A (self)
5960517, 3296675, 2328891, 1931217, 1441377, 3653590, 1243067, 85121, 23255, 1524443, 3144029, 819048, 6905905, 3296675, 717244, ss218941630, ss230946664, ss238552344, ss480375350, ss481146222, ss484979195, ss537016132, ss555209615, ss648782701, ss778474571, ss782935900, ss783898614, ss832191418, ss832856783, ss833930381, ss976261389, ss1068689830, ss1295090061, ss1426144959, ss1574752965, ss1602374473, ss1645368506, ss1751905307, ss1795884752, ss1919482513, ss1946026781, ss1958367541, ss1967000435, ss2020266629, ss2148302694, ss2333643288, ss2624645716, ss2632643798, ss2698303651, ss2710697163, ss2767462342, ss2988631490, ss3021191647, ss3343963469, ss3625569003, ss3626334406, ss3630672902, ss3632929694, ss3633625954, ss3634378888, ss3635318955, ss3636057860, ss3637069508, ss3637820707, ss3640086241, ss3644522788, ss3651537367, ss3656590643, ss3727958202, ss3744062492, ss3744679791, ss3747475024, ss3772180590, ss3783717181, ss3789324526, ss3794196945, ss3826701316, ss3836752505, ss3851127049, ss3896476196, ss3984473933, ss3984859194, ss4016968316, ss5148936598 NC_000001.10:232761115:G:A NC_000001.11:232625369:G:A (self)
42745736, 291281, 3099449, 101425, 32074382, 51032363, 11720129605, ss2170993065, ss3023894258, ss3106246931, ss3688846246, ss3725115853, ss3770879956, ss3800476790, ss3842165015, ss3946721448, ss4487426028 NC_000001.11:232625369:G:A NC_000001.11:232625369:G:A (self)
ss11360914 NT_004433.15:399570:G:A NC_000001.11:232625369:G:A (self)
ss2874205, ss24310038, ss44031265, ss65717283, ss65983228, ss66740251, ss67211394, ss67604567, ss68391608, ss68796526, ss70689652, ss71254438, ss75733727, ss79104545, ss83932849, ss102832086, ss120244575, ss121868795, ss138173166, ss153798646, ss156418600, ss159344828, ss160482712, ss170915119, ss173017490, ss244255569 NT_167186.1:26278894:G:A NC_000001.11:232625369:G:A (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 rs1970168

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.post596+ae089ad