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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.

rs2024714

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:61637438 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.398398 (105452/264690, TOPMED)
C=0.397794 (55688/139992, GnomAD)
C=0.429559 (50102/116636, ALFA) (+ 20 more)
C=0.37152 (29228/78672, PAGE_STUDY)
C=0.36556 (10330/28258, 14KJPN)
C=0.36820 (6171/16760, 8.3KJPN)
C=0.3492 (2236/6404, 1000G_30x)
C=0.3494 (1750/5008, 1000G)
C=0.4141 (1855/4480, Estonian)
C=0.4367 (1683/3854, ALSPAC)
C=0.4533 (1681/3708, TWINSUK)
C=0.3184 (933/2930, KOREAN)
C=0.3079 (564/1832, Korea1K)
C=0.3279 (583/1778, HapMap)
C=0.447 (446/998, GoNL)
C=0.272 (214/788, PRJEB37584)
C=0.457 (274/600, NorthernSweden)
C=0.216 (105/486, SGDP_PRJ)
C=0.361 (78/216, Qatari)
C=0.255 (54/212, Vietnamese)
C=0.43 (32/74, Ancient Sardinia)
C=0.22 (10/46, Siberian)
C=0.47 (19/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CDH4 : Intron Variant
Publications
2 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 116730 C=0.429487 T=0.570513
European Sub 96578 C=0.44215 T=0.55785
African Sub 3790 C=0.3303 T=0.6697
African Others Sub 128 C=0.305 T=0.695
African American Sub 3662 C=0.3312 T=0.6688
Asian Sub 3180 C=0.2796 T=0.7204
East Asian Sub 1930 C=0.2731 T=0.7269
Other Asian Sub 1250 C=0.2896 T=0.7104
Latin American 1 Sub 298 C=0.446 T=0.554
Latin American 2 Sub 2784 C=0.4167 T=0.5833
South Asian Sub 116 C=0.310 T=0.690
Other Sub 9984 C=0.3968 T=0.6032


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 C=0.398398 T=0.601602
gnomAD - Genomes Global Study-wide 139992 C=0.397794 T=0.602206
gnomAD - Genomes European Sub 75842 C=0.43638 T=0.56362
gnomAD - Genomes African Sub 41906 C=0.32957 T=0.67043
gnomAD - Genomes American Sub 13644 C=0.43257 T=0.56743
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.3360 T=0.6640
gnomAD - Genomes East Asian Sub 3132 C=0.2848 T=0.7152
gnomAD - Genomes Other Sub 2150 C=0.4056 T=0.5944
Allele Frequency Aggregator Total Global 116636 C=0.429559 T=0.570441
Allele Frequency Aggregator European Sub 96502 C=0.44224 T=0.55776
Allele Frequency Aggregator Other Sub 9966 C=0.3968 T=0.6032
Allele Frequency Aggregator African Sub 3790 C=0.3303 T=0.6697
Allele Frequency Aggregator Asian Sub 3180 C=0.2796 T=0.7204
Allele Frequency Aggregator Latin American 2 Sub 2784 C=0.4167 T=0.5833
Allele Frequency Aggregator Latin American 1 Sub 298 C=0.446 T=0.554
Allele Frequency Aggregator South Asian Sub 116 C=0.310 T=0.690
The PAGE Study Global Study-wide 78672 C=0.37152 T=0.62848
The PAGE Study AfricanAmerican Sub 32502 C=0.32958 T=0.67042
The PAGE Study Mexican Sub 10806 C=0.42550 T=0.57450
The PAGE Study Asian Sub 8316 C=0.3449 T=0.6551
The PAGE Study PuertoRican Sub 7914 C=0.4459 T=0.5541
The PAGE Study NativeHawaiian Sub 4534 C=0.3366 T=0.6634
The PAGE Study Cuban Sub 4230 C=0.4310 T=0.5690
The PAGE Study Dominican Sub 3826 C=0.4004 T=0.5996
The PAGE Study CentralAmerican Sub 2450 C=0.4082 T=0.5918
The PAGE Study SouthAmerican Sub 1982 C=0.4107 T=0.5893
The PAGE Study NativeAmerican Sub 1260 C=0.4468 T=0.5532
The PAGE Study SouthAsian Sub 852 C=0.309 T=0.691
14KJPN JAPANESE Study-wide 28258 C=0.36556 T=0.63444
8.3KJPN JAPANESE Study-wide 16760 C=0.36820 T=0.63180
1000Genomes_30x Global Study-wide 6404 C=0.3492 T=0.6508
1000Genomes_30x African Sub 1786 C=0.3080 T=0.6920
1000Genomes_30x Europe Sub 1266 C=0.4518 T=0.5482
1000Genomes_30x South Asian Sub 1202 C=0.2612 T=0.7388
1000Genomes_30x East Asian Sub 1170 C=0.2966 T=0.7034
1000Genomes_30x American Sub 980 C=0.462 T=0.538
1000Genomes Global Study-wide 5008 C=0.3494 T=0.6506
1000Genomes African Sub 1322 C=0.3154 T=0.6846
1000Genomes East Asian Sub 1008 C=0.2976 T=0.7024
1000Genomes Europe Sub 1006 C=0.4563 T=0.5437
1000Genomes South Asian Sub 978 C=0.257 T=0.743
1000Genomes American Sub 694 C=0.465 T=0.535
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4141 T=0.5859
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.4367 T=0.5633
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4533 T=0.5467
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.3184 A=0.0000, T=0.6816
Korean Genome Project KOREAN Study-wide 1832 C=0.3079 T=0.6921
HapMap Global Study-wide 1778 C=0.3279 T=0.6721
HapMap African Sub 688 C=0.275 T=0.725
HapMap American Sub 660 C=0.370 T=0.630
HapMap Asian Sub 254 C=0.307 T=0.693
HapMap Europe Sub 176 C=0.409 T=0.591
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.447 T=0.553
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.272 T=0.728
CNV burdens in cranial meningiomas CRM Sub 788 C=0.272 T=0.728
Northern Sweden ACPOP Study-wide 600 C=0.457 T=0.543
SGDP_PRJ Global Study-wide 486 C=0.216 T=0.784
Qatari Global Study-wide 216 C=0.361 T=0.639
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.255 T=0.745
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 C=0.43 T=0.57
Siberian Global Study-wide 46 C=0.22 T=0.78
The Danish reference pan genome Danish Study-wide 40 C=0.47 T=0.53
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 20 NC_000020.11:g.61637438C>A
GRCh38.p14 chr 20 NC_000020.11:g.61637438C>T
GRCh37.p13 chr 20 NC_000020.10:g.60212494C>A
GRCh37.p13 chr 20 NC_000020.10:g.60212494C>T
Gene: CDH4, cadherin 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CDH4 transcript variant 2 NM_001252338.2:c.59-10612…

NM_001252338.2:c.59-106125C>A

N/A Intron Variant
CDH4 transcript variant 3 NM_001252339.3:c.-54+3744…

NM_001252339.3:c.-54+37449C>A

N/A Intron Variant
CDH4 transcript variant 1 NM_001794.5:c.170-106125C…

NM_001794.5:c.170-106125C>A

N/A Intron Variant
CDH4 transcript variant X1 XM_047439812.1:c.-53-1061…

XM_047439812.1:c.-53-106125C>A

N/A Intron Variant
CDH4 transcript variant X2 XM_047439813.1:c.-53-1061…

XM_047439813.1:c.-53-106125C>A

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
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 C= A T
GRCh38.p14 chr 20 NC_000020.11:g.61637438= NC_000020.11:g.61637438C>A NC_000020.11:g.61637438C>T
GRCh37.p13 chr 20 NC_000020.10:g.60212494= NC_000020.10:g.60212494C>A NC_000020.10:g.60212494C>T
CDH4 transcript variant 2 NM_001252338.1:c.59-106125= NM_001252338.1:c.59-106125C>A NM_001252338.1:c.59-106125C>T
CDH4 transcript variant 2 NM_001252338.2:c.59-106125= NM_001252338.2:c.59-106125C>A NM_001252338.2:c.59-106125C>T
CDH4 transcript variant 3 NM_001252339.1:c.-54+37449= NM_001252339.1:c.-54+37449C>A NM_001252339.1:c.-54+37449C>T
CDH4 transcript variant 3 NM_001252339.3:c.-54+37449= NM_001252339.3:c.-54+37449C>A NM_001252339.3:c.-54+37449C>T
CDH4 transcript variant 1 NM_001794.3:c.170-106125= NM_001794.3:c.170-106125C>A NM_001794.3:c.170-106125C>T
CDH4 transcript variant 1 NM_001794.5:c.170-106125= NM_001794.5:c.170-106125C>A NM_001794.5:c.170-106125C>T
CDH4 transcript variant X1 XM_047439812.1:c.-53-106125= XM_047439812.1:c.-53-106125C>A XM_047439812.1:c.-53-106125C>T
CDH4 transcript variant X2 XM_047439813.1:c.-53-106125= XM_047439813.1:c.-53-106125C>A XM_047439813.1:c.-53-106125C>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#.

104 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2933023 Apr 12, 2001 (94)
2 SC_JCM ss3401145 Sep 28, 2001 (100)
3 SC_SNP ss8412514 Apr 21, 2003 (114)
4 ABI ss44200200 Mar 14, 2006 (126)
5 AFFY ss66212874 Dec 02, 2006 (127)
6 AFFY ss76359395 Dec 06, 2007 (129)
7 KRIBB_YJKIM ss81660638 Dec 14, 2007 (130)
8 HGSV ss84282525 Dec 14, 2007 (130)
9 BCMHGSC_JDW ss91749874 Mar 24, 2008 (129)
10 BGI ss103782168 Dec 01, 2009 (131)
11 1000GENOMES ss112219756 Jan 25, 2009 (130)
12 1000GENOMES ss113551659 Jan 25, 2009 (130)
13 ILLUMINA-UK ss117604129 Feb 14, 2009 (130)
14 ENSEMBL ss138269354 Dec 01, 2009 (131)
15 GMI ss156600627 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss168395314 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss170059247 Jul 04, 2010 (132)
18 AFFY ss173377461 Jul 04, 2010 (132)
19 BUSHMAN ss203940412 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss208583612 Jul 04, 2010 (132)
21 1000GENOMES ss228441997 Jul 14, 2010 (132)
22 1000GENOMES ss237894444 Jul 15, 2010 (132)
23 1000GENOMES ss244051708 Jul 15, 2010 (132)
24 GMI ss283439907 May 04, 2012 (137)
25 GMI ss287483422 Apr 25, 2013 (138)
26 PJP ss292595549 May 09, 2011 (134)
27 EXOME_CHIP ss491563075 May 04, 2012 (137)
28 TISHKOFF ss566356918 Apr 25, 2013 (138)
29 SSMP ss662236153 Apr 25, 2013 (138)
30 ILLUMINA ss780682766 Sep 08, 2015 (146)
31 ILLUMINA ss783356126 Sep 08, 2015 (146)
32 EVA-GONL ss994891101 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1082328073 Aug 21, 2014 (142)
34 1000GENOMES ss1365422370 Aug 21, 2014 (142)
35 DDI ss1429100937 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1579571132 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1639131420 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1682125453 Apr 01, 2015 (144)
39 EVA_DECODE ss1698955927 Apr 01, 2015 (144)
40 EVA_SVP ss1713707542 Apr 01, 2015 (144)
41 ILLUMINA ss1752396110 Sep 08, 2015 (146)
42 HAMMER_LAB ss1809577320 Sep 08, 2015 (146)
43 ILLUMINA ss1917949176 Feb 12, 2016 (147)
44 WEILL_CORNELL_DGM ss1938411683 Feb 12, 2016 (147)
45 ILLUMINA ss1946556778 Feb 12, 2016 (147)
46 ILLUMINA ss1959930699 Feb 12, 2016 (147)
47 GENOMED ss1969168743 Jul 19, 2016 (147)
48 JJLAB ss2029986270 Sep 14, 2016 (149)
49 USC_VALOUEV ss2158556296 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2244095087 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2629486038 Nov 08, 2017 (151)
52 ILLUMINA ss2633822273 Nov 08, 2017 (151)
53 GRF ss2704253860 Nov 08, 2017 (151)
54 GNOMAD ss2969241044 Nov 08, 2017 (151)
55 AFFY ss2985221931 Nov 08, 2017 (151)
56 SWEGEN ss3018446481 Nov 08, 2017 (151)
57 ILLUMINA ss3022135415 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3028826140 Nov 08, 2017 (151)
59 CSHL ss3352586949 Nov 08, 2017 (151)
60 ILLUMINA ss3628433244 Oct 12, 2018 (152)
61 ILLUMINA ss3634844715 Oct 12, 2018 (152)
62 ILLUMINA ss3640552013 Oct 12, 2018 (152)
63 ILLUMINA ss3644787191 Oct 12, 2018 (152)
64 ILLUMINA ss3652593220 Oct 12, 2018 (152)
65 ILLUMINA ss3653989989 Oct 12, 2018 (152)
66 EGCUT_WGS ss3685133371 Jul 13, 2019 (153)
67 EVA_DECODE ss3707276074 Jul 13, 2019 (153)
68 ILLUMINA ss3725929886 Jul 13, 2019 (153)
69 ACPOP ss3743536894 Jul 13, 2019 (153)
70 ILLUMINA ss3744495805 Jul 13, 2019 (153)
71 ILLUMINA ss3745144606 Jul 13, 2019 (153)
72 EVA ss3758846664 Jul 13, 2019 (153)
73 PAGE_CC ss3772059957 Jul 13, 2019 (153)
74 ILLUMINA ss3772640739 Jul 13, 2019 (153)
75 PACBIO ss3788690596 Jul 13, 2019 (153)
76 PACBIO ss3793574778 Jul 13, 2019 (153)
77 PACBIO ss3798462128 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3822002043 Jul 13, 2019 (153)
79 EVA ss3835756503 Apr 27, 2020 (154)
80 EVA ss3841502613 Apr 27, 2020 (154)
81 EVA ss3847016207 Apr 27, 2020 (154)
82 SGDP_PRJ ss3889445460 Apr 27, 2020 (154)
83 KRGDB ss3939766458 Apr 27, 2020 (154)
84 KOGIC ss3982608076 Apr 27, 2020 (154)
85 EVA ss3984752821 Apr 27, 2021 (155)
86 EVA ss3985890982 Apr 27, 2021 (155)
87 TOPMED ss5094164419 Apr 27, 2021 (155)
88 TOMMO_GENOMICS ss5230386576 Apr 27, 2021 (155)
89 1000G_HIGH_COVERAGE ss5309375680 Oct 16, 2022 (156)
90 EVA ss5316021730 Oct 16, 2022 (156)
91 EVA ss5438461175 Oct 16, 2022 (156)
92 HUGCELL_USP ss5501599997 Oct 16, 2022 (156)
93 EVA ss5512260801 Oct 16, 2022 (156)
94 1000G_HIGH_COVERAGE ss5616106702 Oct 16, 2022 (156)
95 SANFORD_IMAGENETICS ss5624490621 Oct 16, 2022 (156)
96 SANFORD_IMAGENETICS ss5663536179 Oct 16, 2022 (156)
97 TOMMO_GENOMICS ss5790417944 Oct 16, 2022 (156)
98 YY_MCH ss5818184052 Oct 16, 2022 (156)
99 EVA ss5845919271 Oct 16, 2022 (156)
100 EVA ss5847926881 Oct 16, 2022 (156)
101 EVA ss5853209903 Oct 16, 2022 (156)
102 EVA ss5924091349 Oct 16, 2022 (156)
103 EVA ss5958469390 Oct 16, 2022 (156)
104 EVA ss5981098018 Oct 16, 2022 (156)
105 1000Genomes NC_000020.10 - 60212494 Oct 12, 2018 (152)
106 1000Genomes_30x NC_000020.11 - 61637438 Oct 16, 2022 (156)
107 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 60212494 Oct 12, 2018 (152)
108 Genetic variation in the Estonian population NC_000020.10 - 60212494 Oct 12, 2018 (152)
109 The Danish reference pan genome NC_000020.10 - 60212494 Apr 27, 2020 (154)
110 gnomAD - Genomes NC_000020.11 - 61637438 Apr 27, 2021 (155)
111 Genome of the Netherlands Release 5 NC_000020.10 - 60212494 Apr 27, 2020 (154)
112 HapMap NC_000020.11 - 61637438 Apr 27, 2020 (154)
113 KOREAN population from KRGDB NC_000020.10 - 60212494 Apr 27, 2020 (154)
114 Korean Genome Project NC_000020.11 - 61637438 Apr 27, 2020 (154)
115 Northern Sweden NC_000020.10 - 60212494 Jul 13, 2019 (153)
116 The PAGE Study NC_000020.11 - 61637438 Jul 13, 2019 (153)
117 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 60212494 Apr 27, 2021 (155)
118 CNV burdens in cranial meningiomas NC_000020.10 - 60212494 Apr 27, 2021 (155)
119 Qatari NC_000020.10 - 60212494 Apr 27, 2020 (154)
120 SGDP_PRJ NC_000020.10 - 60212494 Apr 27, 2020 (154)
121 Siberian NC_000020.10 - 60212494 Apr 27, 2020 (154)
122 8.3KJPN NC_000020.10 - 60212494 Apr 27, 2021 (155)
123 14KJPN NC_000020.11 - 61637438 Oct 16, 2022 (156)
124 TopMed NC_000020.11 - 61637438 Apr 27, 2021 (155)
125 UK 10K study - Twins NC_000020.10 - 60212494 Oct 12, 2018 (152)
126 A Vietnamese Genetic Variation Database NC_000020.10 - 60212494 Jul 13, 2019 (153)
127 ALFA NC_000020.11 - 61637438 Apr 27, 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)
rs57118290 Feb 26, 2009 (130)
rs57282270 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
46943852, ss3939766458 NC_000020.10:60212493:C:A NC_000020.11:61637437:C:A (self)
ss84282525, ss91749874, ss112219756, ss113551659, ss117604129, ss168395314, ss170059247, ss203940412, ss208583612, ss283439907, ss287483422, ss292595549, ss1698955927, ss1713707542 NC_000020.9:59645888:C:T NC_000020.11:61637437:C:T (self)
78908266, 43693556, 30871619, 5736071, 19459067, 46943852, 16821759, 1116909, 302397, 20453605, 41462440, 11072650, 88355883, 43693556, 9634641, ss228441997, ss237894444, ss244051708, ss491563075, ss566356918, ss662236153, ss780682766, ss783356126, ss994891101, ss1082328073, ss1365422370, ss1429100937, ss1579571132, ss1639131420, ss1682125453, ss1752396110, ss1809577320, ss1917949176, ss1938411683, ss1946556778, ss1959930699, ss1969168743, ss2029986270, ss2158556296, ss2629486038, ss2633822273, ss2704253860, ss2969241044, ss2985221931, ss3018446481, ss3022135415, ss3352586949, ss3628433244, ss3634844715, ss3640552013, ss3644787191, ss3652593220, ss3653989989, ss3685133371, ss3743536894, ss3744495805, ss3745144606, ss3758846664, ss3772640739, ss3788690596, ss3793574778, ss3798462128, ss3835756503, ss3841502613, ss3889445460, ss3939766458, ss3984752821, ss3985890982, ss5230386576, ss5316021730, ss5438461175, ss5512260801, ss5624490621, ss5663536179, ss5845919271, ss5847926881, ss5958469390, ss5981098018 NC_000020.10:60212493:C:T NC_000020.11:61637437:C:T (self)
103632637, 556495055, 2166590, 38986077, 1281426, 124255048, 369273364, 12479886118, ss2244095087, ss3028826140, ss3707276074, ss3725929886, ss3772059957, ss3822002043, ss3847016207, ss3982608076, ss5094164419, ss5309375680, ss5501599997, ss5616106702, ss5790417944, ss5818184052, ss5853209903, ss5924091349 NC_000020.11:61637437:C:T NC_000020.11:61637437:C:T (self)
ss2933023, ss3401145, ss44200200, ss66212874, ss76359395, ss81660638, ss103782168, ss138269354, ss156600627, ss173377461 NT_011362.10:30408585:C:T NC_000020.11:61637437:C:T (self)
ss8412514 NT_030871.1:268266:C:T NC_000020.11:61637437:C:T (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 rs2024714
PMID Title Author Year Journal
20834067 Joint influence of small-effect genetic variants on human longevity. Yashin AI et al. 2010 Aging
22533364 Polygenic effects of common single-nucleotide polymorphisms on life span: when association meets causality. Yashin AI et al. 2012 Rejuvenation research
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