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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.

rs761162

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:14044642 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.361559 (95701/264690, TOPMED)
T=0.379245 (53026/139820, GnomAD)
T=0.47502 (32863/69182, ALFA) (+ 17 more)
T=0.28305 (4744/16760, 8.3KJPN)
T=0.3289 (1647/5008, 1000G)
G=0.4955 (2220/4480, Estonian)
T=0.4878 (1880/3854, ALSPAC)
G=0.4960 (1839/3708, TWINSUK)
T=0.3000 (879/2930, KOREAN)
T=0.3551 (740/2084, HGDP_Stanford)
T=0.3006 (567/1886, HapMap)
T=0.481 (480/998, GoNL)
T=0.442 (265/600, NorthernSweden)
T=0.245 (113/462, SGDP_PRJ)
T=0.491 (106/216, Qatari)
T=0.332 (69/208, Vietnamese)
T=0.38 (22/58, Ancient Sardinia)
T=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)
T=0.30 (12/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KAZN : Intron Variant
Publications
2 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.14044642T>A
GRCh38.p13 chr 1 NC_000001.11:g.14044642T>C
GRCh38.p13 chr 1 NC_000001.11:g.14044642T>G
GRCh37.p13 chr 1 NC_000001.10:g.14371137T>A
GRCh37.p13 chr 1 NC_000001.10:g.14371137T>C
GRCh37.p13 chr 1 NC_000001.10:g.14371137T>G
KAZN RefSeqGene NG_029844.2:g.156257T>A
KAZN RefSeqGene NG_029844.2:g.156257T>C
KAZN RefSeqGene NG_029844.2:g.156257T>G
Gene: KAZN, kazrin, periplakin interacting protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KAZN transcript variant D NM_001017999.3:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant B NM_001018000.4:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant C NM_001018001.3:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant F NM_001370229.1:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant G NM_001370230.1:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant H NM_001370231.1:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant A NM_015209.2:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant E NM_201628.3:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant X3 XM_005245795.5:c.122-1357…

XM_005245795.5:c.122-135793T>A

N/A Intron Variant
KAZN transcript variant X1 XM_011541074.3:c.122-1357…

XM_011541074.3:c.122-135793T>A

N/A Intron Variant
KAZN transcript variant X6 XM_011541080.3:c.122-1357…

XM_011541080.3:c.122-135793T>A

N/A Intron Variant
KAZN transcript variant X7 XM_017000768.2:c.122-1357…

XM_017000768.2:c.122-135793T>A

N/A Intron Variant
KAZN transcript variant X8 XM_017000769.2:c.122-1357…

XM_017000769.2:c.122-135793T>A

N/A Intron Variant
KAZN transcript variant X9 XM_017000770.2:c.122-1357…

XM_017000770.2:c.122-135793T>A

N/A Intron Variant
KAZN transcript variant X2 XM_011541075.2:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant X4 XM_011541076.2:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant X5 XM_011541077.2:c. N/A Genic Upstream Transcript Variant
KAZN transcript variant X10 XM_017000771.1:c. N/A Genic Upstream 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

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 69182 T=0.47502 G=0.52498
European Sub 56596 T=0.50353 G=0.49647
African Sub 4524 T=0.1967 G=0.8033
African Others Sub 170 T=0.141 G=0.859
African American Sub 4354 T=0.1989 G=0.8011
Asian Sub 190 T=0.368 G=0.632
East Asian Sub 148 T=0.351 G=0.649
Other Asian Sub 42 T=0.43 G=0.57
Latin American 1 Sub 254 T=0.346 G=0.654
Latin American 2 Sub 1232 T=0.2727 G=0.7273
South Asian Sub 4954 T=0.4839 G=0.5161
Other Sub 1432 T=0.4078 G=0.5922


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 T=0.361559 G=0.638441
gnomAD - Genomes Global Study-wide 139820 T=0.379245 G=0.620755
gnomAD - Genomes European Sub 75716 T=0.49373 G=0.50627
gnomAD - Genomes African Sub 41878 T=0.20030 G=0.79970
gnomAD - Genomes American Sub 13636 T=0.29979 G=0.70021
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.4425 G=0.5575
gnomAD - Genomes East Asian Sub 3120 T=0.2962 G=0.7038
gnomAD - Genomes Other Sub 2148 T=0.3599 G=0.6401
8.3KJPN JAPANESE Study-wide 16760 T=0.28305 G=0.71695
1000Genomes Global Study-wide 5008 T=0.3289 G=0.6711
1000Genomes African Sub 1322 T=0.1710 G=0.8290
1000Genomes East Asian Sub 1008 T=0.3036 G=0.6964
1000Genomes Europe Sub 1006 T=0.4911 G=0.5089
1000Genomes South Asian Sub 978 T=0.455 G=0.545
1000Genomes American Sub 694 T=0.254 G=0.746
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5045 G=0.4955
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4878 G=0.5122
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5040 G=0.4960
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3000 A=0.0000, C=0.0000, G=0.7000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.3551 G=0.6449
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.281 G=0.719
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.459 G=0.541
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.440 G=0.560
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.466 G=0.534
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.264 G=0.736
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.023 G=0.977
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.64 G=0.36
HapMap Global Study-wide 1886 T=0.3006 G=0.6994
HapMap American Sub 768 T=0.408 G=0.592
HapMap African Sub 688 T=0.140 G=0.860
HapMap Asian Sub 254 T=0.307 G=0.693
HapMap Europe Sub 176 T=0.455 G=0.545
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.481 G=0.519
Northern Sweden ACPOP Study-wide 600 T=0.442 G=0.558
SGDP_PRJ Global Study-wide 462 T=0.245 G=0.755
Qatari Global Study-wide 216 T=0.491 G=0.509
A Vietnamese Genetic Variation Database Global Study-wide 208 T=0.332 G=0.668
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 58 T=0.38 G=0.62
The Danish reference pan genome Danish Study-wide 40 T=0.50 G=0.50
Siberian Global Study-wide 40 T=0.30 G=0.70
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 T= A C G
GRCh38.p13 chr 1 NC_000001.11:g.14044642= NC_000001.11:g.14044642T>A NC_000001.11:g.14044642T>C NC_000001.11:g.14044642T>G
GRCh37.p13 chr 1 NC_000001.10:g.14371137= NC_000001.10:g.14371137T>A NC_000001.10:g.14371137T>C NC_000001.10:g.14371137T>G
KAZN RefSeqGene NG_029844.2:g.156257= NG_029844.2:g.156257T>A NG_029844.2:g.156257T>C NG_029844.2:g.156257T>G
KAZN transcript variant X1 XM_005245795.1:c.122-135793= XM_005245795.1:c.122-135793T>A XM_005245795.1:c.122-135793T>C XM_005245795.1:c.122-135793T>G
KAZN transcript variant X3 XM_005245795.5:c.122-135793= XM_005245795.5:c.122-135793T>A XM_005245795.5:c.122-135793T>C XM_005245795.5:c.122-135793T>G
KAZN transcript variant X2 XM_005245796.1:c.122-135793= XM_005245796.1:c.122-135793T>A XM_005245796.1:c.122-135793T>C XM_005245796.1:c.122-135793T>G
KAZN transcript variant X1 XM_011541074.3:c.122-135793= XM_011541074.3:c.122-135793T>A XM_011541074.3:c.122-135793T>C XM_011541074.3:c.122-135793T>G
KAZN transcript variant X6 XM_011541080.3:c.122-135793= XM_011541080.3:c.122-135793T>A XM_011541080.3:c.122-135793T>C XM_011541080.3:c.122-135793T>G
KAZN transcript variant X7 XM_017000768.2:c.122-135793= XM_017000768.2:c.122-135793T>A XM_017000768.2:c.122-135793T>C XM_017000768.2:c.122-135793T>G
KAZN transcript variant X8 XM_017000769.2:c.122-135793= XM_017000769.2:c.122-135793T>A XM_017000769.2:c.122-135793T>C XM_017000769.2:c.122-135793T>G
KAZN transcript variant X9 XM_017000770.2:c.122-135793= XM_017000770.2:c.122-135793T>A XM_017000770.2:c.122-135793T>C XM_017000770.2:c.122-135793T>G
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#.

94 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss134369 Oct 05, 2000 (86)
2 BCM_SSAHASNP ss9833206 Jul 11, 2003 (116)
3 WI_SSAHASNP ss11364422 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss16404150 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss19110605 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19840808 Feb 27, 2004 (120)
7 SSAHASNP ss20433070 Apr 05, 2004 (121)
8 PERLEGEN ss24235912 Sep 20, 2004 (123)
9 ILLUMINA ss65720059 Oct 15, 2006 (127)
10 KRIBB_YJKIM ss65836615 Nov 30, 2006 (127)
11 ILLUMINA ss67806636 Nov 30, 2006 (127)
12 ILLUMINA ss67976325 Nov 30, 2006 (127)
13 ILLUMINA ss68281346 Dec 12, 2006 (127)
14 ILLUMINA ss70937756 May 26, 2008 (130)
15 ILLUMINA ss71540829 May 17, 2007 (127)
16 ILLUMINA ss75830819 Dec 07, 2007 (129)
17 KRIBB_YJKIM ss83554950 Dec 16, 2007 (130)
18 HGSV ss83764414 Dec 16, 2007 (130)
19 HGSV ss84040931 Dec 16, 2007 (130)
20 HGSV ss84610057 Dec 16, 2007 (130)
21 HUMANGENOME_JCVI ss99187587 Feb 06, 2009 (130)
22 BGI ss102721258 Dec 01, 2009 (131)
23 1000GENOMES ss108002811 Jan 22, 2009 (130)
24 1000GENOMES ss110078886 Jan 24, 2009 (130)
25 ILLUMINA-UK ss118508160 Feb 14, 2009 (130)
26 ILLUMINA ss120244554 Dec 01, 2009 (131)
27 ENSEMBL ss139239338 Dec 01, 2009 (131)
28 ILLUMINA ss154434456 Dec 01, 2009 (131)
29 GMI ss154658272 Dec 01, 2009 (131)
30 ILLUMINA ss159609504 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss163093193 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss163852810 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss166117777 Jul 04, 2010 (132)
34 ILLUMINA ss174450179 Jul 04, 2010 (132)
35 BUSHMAN ss198045225 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss205168802 Jul 04, 2010 (132)
37 1000GENOMES ss218245420 Jul 14, 2010 (132)
38 1000GENOMES ss230433193 Jul 14, 2010 (132)
39 1000GENOMES ss238147499 Jul 15, 2010 (132)
40 ILLUMINA ss244255225 Jul 04, 2010 (132)
41 BL ss252928054 May 09, 2011 (134)
42 GMI ss275722281 May 04, 2012 (137)
43 PJP ss290626641 May 09, 2011 (134)
44 ILLUMINA ss537490514 Sep 08, 2015 (146)
45 TISHKOFF ss553815851 Apr 25, 2013 (138)
46 SSMP ss647589828 Apr 25, 2013 (138)
47 ILLUMINA ss833120480 Jul 12, 2019 (153)
48 EVA-GONL ss974874875 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1067682595 Aug 21, 2014 (142)
50 1000GENOMES ss1289758564 Aug 21, 2014 (142)
51 DDI ss1425719012 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1573898369 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1599584089 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1642578122 Apr 01, 2015 (144)
55 EVA_SVP ss1712312485 Apr 01, 2015 (144)
56 HAMMER_LAB ss1793933102 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1918077547 Feb 12, 2016 (147)
58 GENOMED ss1966688234 Jul 19, 2016 (147)
59 JJLAB ss2019552370 Sep 14, 2016 (149)
60 USC_VALOUEV ss2147550816 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2160190003 Dec 20, 2016 (150)
62 TOPMED ss2322355693 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2624291990 Nov 08, 2017 (151)
64 GRF ss2697451424 Nov 08, 2017 (151)
65 GNOMAD ss2751855513 Nov 08, 2017 (151)
66 SWEGEN ss2986338689 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3023539705 Nov 08, 2017 (151)
68 TOPMED ss3069143268 Nov 08, 2017 (151)
69 CSHL ss3343328277 Nov 08, 2017 (151)
70 ILLUMINA ss3626030652 Oct 11, 2018 (152)
71 ILLUMINA ss3637738592 Oct 11, 2018 (152)
72 ILLUMINA ss3638890421 Oct 11, 2018 (152)
73 ILLUMINA ss3639757975 Oct 11, 2018 (152)
74 ILLUMINA ss3642752332 Oct 11, 2018 (152)
75 ILLUMINA ss3643811854 Oct 11, 2018 (152)
76 URBANLAB ss3646604527 Oct 11, 2018 (152)
77 EGCUT_WGS ss3654425350 Jul 12, 2019 (153)
78 EVA_DECODE ss3686203685 Jul 12, 2019 (153)
79 ACPOP ss3726807892 Jul 12, 2019 (153)
80 EVA ss3745852456 Jul 12, 2019 (153)
81 PACBIO ss3783329366 Jul 12, 2019 (153)
82 PACBIO ss3789002817 Jul 12, 2019 (153)
83 PACBIO ss3793875529 Jul 12, 2019 (153)
84 KHV_HUMAN_GENOMES ss3798873800 Jul 12, 2019 (153)
85 EVA ss3826032675 Apr 25, 2020 (154)
86 EVA ss3836403612 Apr 25, 2020 (154)
87 EVA ss3841807720 Apr 25, 2020 (154)
88 HGDP ss3847325060 Apr 25, 2020 (154)
89 SGDP_PRJ ss3848249276 Apr 25, 2020 (154)
90 KRGDB ss3893140174 Apr 25, 2020 (154)
91 EVA ss3984779618 Apr 25, 2021 (155)
92 EVA ss4016894395 Apr 25, 2021 (155)
93 TOPMED ss4439864231 Apr 25, 2021 (155)
94 TOMMO_GENOMICS ss5142583797 Apr 25, 2021 (155)
95 1000Genomes NC_000001.10 - 14371137 Oct 11, 2018 (152)
96 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 14371137 Oct 11, 2018 (152)
97 Genetic variation in the Estonian population NC_000001.10 - 14371137 Oct 11, 2018 (152)
98 The Danish reference pan genome NC_000001.10 - 14371137 Apr 25, 2020 (154)
99 gnomAD - Genomes NC_000001.11 - 14044642 Apr 25, 2021 (155)
100 Genome of the Netherlands Release 5 NC_000001.10 - 14371137 Apr 25, 2020 (154)
101 HGDP-CEPH-db Supplement 1 NC_000001.9 - 14243724 Apr 25, 2020 (154)
102 HapMap NC_000001.11 - 14044642 Apr 25, 2020 (154)
103 KOREAN population from KRGDB NC_000001.10 - 14371137 Apr 25, 2020 (154)
104 Northern Sweden NC_000001.10 - 14371137 Jul 12, 2019 (153)
105 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 14371137 Apr 25, 2021 (155)
106 Qatari NC_000001.10 - 14371137 Apr 25, 2020 (154)
107 SGDP_PRJ NC_000001.10 - 14371137 Apr 25, 2020 (154)
108 Siberian NC_000001.10 - 14371137 Apr 25, 2020 (154)
109 8.3KJPN NC_000001.10 - 14371137 Apr 25, 2021 (155)
110 TopMed NC_000001.11 - 14044642 Apr 25, 2021 (155)
111 UK 10K study - Twins NC_000001.10 - 14371137 Oct 11, 2018 (152)
112 A Vietnamese Genetic Variation Database NC_000001.10 - 14371137 Jul 12, 2019 (153)
113 ALFA NC_000001.11 - 14044642 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)
rs17351249 Oct 07, 2004 (123)
rs61104533 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
317568, ss3893140174 NC_000001.10:14371136:T:A NC_000001.11:14044641:T:A (self)
317568, ss3893140174 NC_000001.10:14371136:T:C NC_000001.11:14044641:T:C (self)
ss83764414, ss84040931, ss84610057, ss3638890421, ss3639757975, ss3643811854 NC_000001.8:14116442:T:G NC_000001.11:14044641:T:G (self)
2952, ss108002811, ss110078886, ss118508160, ss163093193, ss163852810, ss166117777, ss198045225, ss205168802, ss252928054, ss275722281, ss290626641, ss1712312485, ss3642752332, ss3847325060 NC_000001.9:14243723:T:G NC_000001.11:14044641:T:G (self)
437088, 226322, 163598, 1397194, 97907, 317568, 92757, 5545, 119477, 266256, 67170, 553104, 226322, 47809, ss218245420, ss230433193, ss238147499, ss537490514, ss553815851, ss647589828, ss833120480, ss974874875, ss1067682595, ss1289758564, ss1425719012, ss1573898369, ss1599584089, ss1642578122, ss1793933102, ss1918077547, ss1966688234, ss2019552370, ss2147550816, ss2322355693, ss2624291990, ss2697451424, ss2751855513, ss2986338689, ss3343328277, ss3626030652, ss3637738592, ss3654425350, ss3726807892, ss3745852456, ss3783329366, ss3789002817, ss3793875529, ss3826032675, ss3836403612, ss3848249276, ss3893140174, ss3984779618, ss4016894395, ss5142583797 NC_000001.10:14371136:T:G NC_000001.11:14044641:T:G (self)
3076075, 16694, 2183064, 3470566, 11645735493, ss2160190003, ss3023539705, ss3069143268, ss3646604527, ss3686203685, ss3798873800, ss3841807720, ss4439864231 NC_000001.11:14044641:T:G NC_000001.11:14044641:T:G (self)
ss134369, ss24235912, ss65720059, ss65836615, ss67806636, ss67976325, ss68281346, ss70937756, ss71540829, ss75830819, ss83554950, ss99187587, ss102721258, ss120244554, ss139239338, ss154434456, ss154658272, ss159609504, ss174450179, ss244255225 NT_004610.19:1051224:T:G NC_000001.11:14044641:T:G (self)
ss9833206, ss11364422 NT_004873.14:748301:T:G NC_000001.11:14044641:T:G (self)
ss16404150, ss19110605, ss19840808, ss20433070 NT_004873.15:748301:T:G NC_000001.11:14044641:T:G (self)
Help

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

2 citations for rs761162
PMID Title Author Year Journal
19005574 The EPHA2 gene is associated with cataracts linked to chromosome 1p. Shiels A et al. 2008 Molecular vision
21937999 A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. Ansar M et al. 2011 Journal of human genetics
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