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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.

rs13447720

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:94432160 (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
T>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.215614 (66212/307086, ALFA)
C=0.163656 (43318/264690, TOPMED)
C=0.169895 (23807/140128, GnomAD) (+ 21 more)
C=0.12853 (10114/78690, PAGE_STUDY)
C=0.16445 (4647/28258, 14KJPN)
C=0.16589 (2780/16758, 8.3KJPN)
C=0.1547 (991/6404, 1000G_30x)
C=0.1528 (765/5008, 1000G)
C=0.2172 (973/4480, Estonian)
C=0.2410 (929/3854, ALSPAC)
C=0.2392 (887/3708, TWINSUK)
C=0.1922 (563/2930, KOREAN)
C=0.1348 (281/2084, HGDP_Stanford)
C=0.1217 (230/1890, HapMap)
C=0.1496 (170/1136, Daghestan)
C=0.237 (237/998, GoNL)
C=0.222 (175/790, PRJEB37584)
C=0.287 (172/600, NorthernSweden)
C=0.097 (21/216, Qatari)
C=0.278 (60/216, Vietnamese)
T=0.403 (62/154, SGDP_PRJ)
C=0.25 (18/72, Ancient Sardinia)
C=0.45 (18/40, GENOME_DK)
T=0.44 (7/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MRE11 : Intron Variant
Publications
5 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 312122 T=0.784927 A=0.000000, C=0.215073
European Sub 273218 T=0.774334 A=0.000000, C=0.225666
African Sub 11602 T=0.92803 A=0.00000, C=0.07197
African Others Sub 452 T=0.962 A=0.000, C=0.038
African American Sub 11150 T=0.92664 A=0.00000, C=0.07336
Asian Sub 3938 T=0.7915 A=0.0000, C=0.2085
East Asian Sub 3192 T=0.8001 A=0.0000, C=0.1999
Other Asian Sub 746 T=0.755 A=0.000, C=0.245
Latin American 1 Sub 1134 T=0.8122 A=0.0000, C=0.1878
Latin American 2 Sub 7228 T=0.8644 A=0.0000, C=0.1356
South Asian Sub 5224 T=0.8367 A=0.0000, C=0.1633
Other Sub 9778 T=0.8189 A=0.0000, C=0.1811


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
Allele Frequency Aggregator Total Global 307086 T=0.784386 A=0.000000, C=0.215614
Allele Frequency Aggregator European Sub 270124 T=0.774400 A=0.000000, C=0.225600
Allele Frequency Aggregator African Sub 10460 T=0.92878 A=0.00000, C=0.07122
Allele Frequency Aggregator Other Sub 8978 T=0.8151 A=0.0000, C=0.1849
Allele Frequency Aggregator Latin American 2 Sub 7228 T=0.8644 A=0.0000, C=0.1356
Allele Frequency Aggregator South Asian Sub 5224 T=0.8367 A=0.0000, C=0.1633
Allele Frequency Aggregator Asian Sub 3938 T=0.7915 A=0.0000, C=0.2085
Allele Frequency Aggregator Latin American 1 Sub 1134 T=0.8122 A=0.0000, C=0.1878
TopMed Global Study-wide 264690 T=0.836344 C=0.163656
gnomAD - Genomes Global Study-wide 140128 T=0.830105 C=0.169895
gnomAD - Genomes European Sub 75864 T=0.77332 C=0.22668
gnomAD - Genomes African Sub 42018 T=0.92991 C=0.07009
gnomAD - Genomes American Sub 13652 T=0.85592 C=0.14408
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.8383 C=0.1617
gnomAD - Genomes East Asian Sub 3120 T=0.7478 C=0.2522
gnomAD - Genomes Other Sub 2154 T=0.8264 C=0.1736
The PAGE Study Global Study-wide 78690 T=0.87147 C=0.12853
The PAGE Study AfricanAmerican Sub 32514 T=0.92542 C=0.07458
The PAGE Study Mexican Sub 10808 T=0.88111 C=0.11889
The PAGE Study Asian Sub 8316 T=0.8141 C=0.1859
The PAGE Study PuertoRican Sub 7914 T=0.8170 C=0.1830
The PAGE Study NativeHawaiian Sub 4534 T=0.7300 C=0.2700
The PAGE Study Cuban Sub 4228 T=0.8096 C=0.1904
The PAGE Study Dominican Sub 3828 T=0.8743 C=0.1257
The PAGE Study CentralAmerican Sub 2450 T=0.8857 C=0.1143
The PAGE Study SouthAmerican Sub 1982 T=0.8678 C=0.1322
The PAGE Study NativeAmerican Sub 1260 T=0.8286 C=0.1714
The PAGE Study SouthAsian Sub 856 T=0.834 C=0.166
14KJPN JAPANESE Study-wide 28258 T=0.83555 C=0.16445
8.3KJPN JAPANESE Study-wide 16758 T=0.83411 C=0.16589
1000Genomes_30x Global Study-wide 6404 T=0.8453 C=0.1547
1000Genomes_30x African Sub 1786 T=0.9597 C=0.0403
1000Genomes_30x Europe Sub 1266 T=0.7757 C=0.2243
1000Genomes_30x South Asian Sub 1202 T=0.8170 C=0.1830
1000Genomes_30x East Asian Sub 1170 T=0.7752 C=0.2248
1000Genomes_30x American Sub 980 T=0.845 C=0.155
1000Genomes Global Study-wide 5008 T=0.8472 C=0.1528
1000Genomes African Sub 1322 T=0.9599 C=0.0401
1000Genomes East Asian Sub 1008 T=0.7837 C=0.2163
1000Genomes Europe Sub 1006 T=0.7853 C=0.2147
1000Genomes South Asian Sub 978 T=0.822 C=0.178
1000Genomes American Sub 694 T=0.850 C=0.150
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7828 C=0.2172
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7590 C=0.2410
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7608 C=0.2392
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.8078 C=0.1922
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.8652 C=0.1348
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.777 C=0.223
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.867 C=0.133
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.914 C=0.086
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.819 C=0.181
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.938 C=0.062
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.935 C=0.065
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.94 C=0.06
HapMap Global Study-wide 1890 T=0.8783 C=0.1217
HapMap American Sub 768 T=0.819 C=0.181
HapMap African Sub 692 T=0.962 C=0.038
HapMap Asian Sub 254 T=0.854 C=0.146
HapMap Europe Sub 176 T=0.841 C=0.159
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.8504 C=0.1496
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.865 C=0.135
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.833 C=0.167
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.861 C=0.139
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.778 C=0.222
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.83 C=0.17
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.92 C=0.08
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.763 C=0.237
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.778 C=0.222
CNV burdens in cranial meningiomas CRM Sub 790 T=0.778 C=0.222
Northern Sweden ACPOP Study-wide 600 T=0.713 C=0.287
Qatari Global Study-wide 216 T=0.903 C=0.097
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.722 C=0.278
SGDP_PRJ Global Study-wide 154 T=0.403 C=0.597
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 T=0.75 C=0.25
The Danish reference pan genome Danish Study-wide 40 T=0.55 C=0.45
Siberian Global Study-wide 16 T=0.44 C=0.56
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 11 NC_000011.10:g.94432160T>A
GRCh38.p14 chr 11 NC_000011.10:g.94432160T>C
GRCh37.p13 chr 11 NC_000011.9:g.94165326T>A
GRCh37.p13 chr 11 NC_000011.9:g.94165326T>C
MRE11 RefSeqGene (LRG_85) NG_007261.1:g.66715A>T
MRE11 RefSeqGene (LRG_85) NG_007261.1:g.66715A>G
Gene: MRE11, MRE11 homolog, double strand break repair nuclease (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MRE11 transcript variant 3 NM_001330347.2:c.1992-217…

NM_001330347.2:c.1992-2174A>T

N/A Intron Variant
MRE11 transcript variant 2 NM_005590.4:c.1911-2174A>T N/A Intron Variant
MRE11 transcript variant 1 NM_005591.4:c.1995-2174A>T N/A Intron Variant
MRE11 transcript variant X9 XM_005274008.4:c.1527-217…

XM_005274008.4:c.1527-2174A>T

N/A Intron Variant
MRE11 transcript variant X5 XM_006718842.4:c.1992-217…

XM_006718842.4:c.1992-2174A>T

N/A Intron Variant
MRE11 transcript variant X4 XM_011542837.3:c.1995-217…

XM_011542837.3:c.1995-2174A>T

N/A Intron Variant
MRE11 transcript variant X1 XM_017017772.2:c.1995-217…

XM_017017772.2:c.1995-2174A>T

N/A Intron Variant
MRE11 transcript variant X7 XM_047426967.1:c.1911-217…

XM_047426967.1:c.1911-2174A>T

N/A Intron Variant
MRE11 transcript variant X10 XM_047426968.1:c.1116-217…

XM_047426968.1:c.1116-2174A>T

N/A Intron Variant
MRE11 transcript variant X3 XR_007062482.1:n. N/A Intron Variant
MRE11 transcript variant X6 XR_007062483.1:n. N/A Intron Variant
MRE11 transcript variant X8 XR_007062484.1:n. N/A Intron Variant
MRE11 transcript variant X2 XR_947828.3:n. 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 T= A C
GRCh38.p14 chr 11 NC_000011.10:g.94432160= NC_000011.10:g.94432160T>A NC_000011.10:g.94432160T>C
GRCh37.p13 chr 11 NC_000011.9:g.94165326= NC_000011.9:g.94165326T>A NC_000011.9:g.94165326T>C
MRE11 RefSeqGene (LRG_85) NG_007261.1:g.66715= NG_007261.1:g.66715A>T NG_007261.1:g.66715A>G
MRE11 transcript variant 3 NM_001330347.2:c.1992-2174= NM_001330347.2:c.1992-2174A>T NM_001330347.2:c.1992-2174A>G
MRE11 transcript variant 2 NM_005590.3:c.1911-2174= NM_005590.3:c.1911-2174A>T NM_005590.3:c.1911-2174A>G
MRE11 transcript variant 2 NM_005590.4:c.1911-2174= NM_005590.4:c.1911-2174A>T NM_005590.4:c.1911-2174A>G
MRE11 transcript variant 1 NM_005591.3:c.1995-2174= NM_005591.3:c.1995-2174A>T NM_005591.3:c.1995-2174A>G
MRE11 transcript variant 1 NM_005591.4:c.1995-2174= NM_005591.4:c.1995-2174A>T NM_005591.4:c.1995-2174A>G
MRE11A transcript variant X1 XM_005274006.1:c.2004-2174= XM_005274006.1:c.2004-2174A>T XM_005274006.1:c.2004-2174A>G
MRE11A transcript variant X2 XM_005274007.1:c.1995-2174= XM_005274007.1:c.1995-2174A>T XM_005274007.1:c.1995-2174A>G
MRE11A transcript variant X3 XM_005274008.1:c.1527-2174= XM_005274008.1:c.1527-2174A>T XM_005274008.1:c.1527-2174A>G
MRE11 transcript variant X9 XM_005274008.4:c.1527-2174= XM_005274008.4:c.1527-2174A>T XM_005274008.4:c.1527-2174A>G
MRE11 transcript variant X5 XM_006718842.4:c.1992-2174= XM_006718842.4:c.1992-2174A>T XM_006718842.4:c.1992-2174A>G
MRE11 transcript variant X4 XM_011542837.3:c.1995-2174= XM_011542837.3:c.1995-2174A>T XM_011542837.3:c.1995-2174A>G
MRE11 transcript variant X1 XM_017017772.2:c.1995-2174= XM_017017772.2:c.1995-2174A>T XM_017017772.2:c.1995-2174A>G
MRE11 transcript variant X7 XM_047426967.1:c.1911-2174= XM_047426967.1:c.1911-2174A>T XM_047426967.1:c.1911-2174A>G
MRE11 transcript variant X10 XM_047426968.1:c.1116-2174= XM_047426968.1:c.1116-2174A>T XM_047426968.1:c.1116-2174A>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#.

118 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss23133654 Apr 05, 2004 (121)
2 ILLUMINA ss66769466 Dec 01, 2006 (127)
3 EGP_SNPS ss66859231 Dec 01, 2006 (127)
4 ILLUMINA ss67081903 Dec 01, 2006 (127)
5 ILLUMINA ss67414705 Dec 01, 2006 (127)
6 ILLUMINA ss70424642 May 17, 2007 (127)
7 ILLUMINA ss70606648 May 26, 2008 (130)
8 ILLUMINA ss71153561 May 17, 2007 (127)
9 ILLUMINA ss75772633 Dec 06, 2007 (129)
10 KRIBB_YJKIM ss85323128 Dec 15, 2007 (130)
11 BGI ss102988512 Dec 01, 2009 (131)
12 ILLUMINA ss121650928 Dec 01, 2009 (131)
13 ILLUMINA ss153378759 Dec 01, 2009 (131)
14 ILLUMINA ss159258120 Dec 01, 2009 (131)
15 ILLUMINA ss160339118 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss168684949 Jul 04, 2010 (132)
17 ILLUMINA ss170386929 Jul 04, 2010 (132)
18 ILLUMINA ss172428840 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss207646749 Jul 04, 2010 (132)
20 1000GENOMES ss225393816 Jul 14, 2010 (132)
21 1000GENOMES ss235668467 Jul 15, 2010 (132)
22 1000GENOMES ss242277251 Jul 15, 2010 (132)
23 GMI ss281121823 May 04, 2012 (137)
24 GMI ss286432624 Apr 25, 2013 (138)
25 ILLUMINA ss479932339 May 04, 2012 (137)
26 ILLUMINA ss479940361 May 04, 2012 (137)
27 ILLUMINA ss480574808 Sep 08, 2015 (146)
28 ILLUMINA ss484764366 May 04, 2012 (137)
29 ILLUMINA ss536855590 Sep 08, 2015 (146)
30 TISHKOFF ss562747013 Apr 25, 2013 (138)
31 SSMP ss658265655 Apr 25, 2013 (138)
32 ILLUMINA ss778427620 Sep 08, 2015 (146)
33 ILLUMINA ss782828905 Sep 08, 2015 (146)
34 ILLUMINA ss783793731 Sep 08, 2015 (146)
35 ILLUMINA ss825393916 Apr 01, 2015 (144)
36 ILLUMINA ss832082355 Sep 08, 2015 (146)
37 ILLUMINA ss832770355 Jul 13, 2019 (153)
38 ILLUMINA ss833883062 Sep 08, 2015 (146)
39 EVA-GONL ss988831242 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1077947693 Aug 21, 2014 (142)
41 1000GENOMES ss1342475771 Aug 21, 2014 (142)
42 HAMMER_LAB ss1397613294 Sep 08, 2015 (146)
43 DDI ss1426720757 Apr 01, 2015 (144)
44 EVA_GENOME_DK ss1575873359 Apr 01, 2015 (144)
45 EVA_DECODE ss1598494299 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1627201080 Apr 01, 2015 (144)
47 EVA_UK10K_TWINSUK ss1670195113 Apr 01, 2015 (144)
48 EVA_SVP ss1713275113 Apr 01, 2015 (144)
49 ILLUMINA ss1752039276 Sep 08, 2015 (146)
50 WEILL_CORNELL_DGM ss1932193615 Feb 12, 2016 (147)
51 ILLUMINA ss1946319535 Feb 12, 2016 (147)
52 ILLUMINA ss1959376218 Feb 12, 2016 (147)
53 GENOMED ss1967425656 Jul 19, 2016 (147)
54 JJLAB ss2026838978 Sep 14, 2016 (149)
55 USC_VALOUEV ss2155150620 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2184690920 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2627893104 Nov 08, 2017 (151)
58 ILLUMINA ss2632872293 Nov 08, 2017 (151)
59 ILLUMINA ss2635029127 Nov 08, 2017 (151)
60 GRF ss2699453048 Nov 08, 2017 (151)
61 ILLUMINA ss2710742807 Nov 08, 2017 (151)
62 GNOMAD ss2903079628 Nov 08, 2017 (151)
63 SWEGEN ss3008581628 Nov 08, 2017 (151)
64 ILLUMINA ss3021365187 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3027216670 Nov 08, 2017 (151)
66 CSHL ss3349734898 Nov 08, 2017 (151)
67 ILLUMINA ss3625607071 Oct 12, 2018 (152)
68 ILLUMINA ss3626724062 Oct 12, 2018 (152)
69 ILLUMINA ss3630887355 Oct 12, 2018 (152)
70 ILLUMINA ss3632995011 Oct 12, 2018 (152)
71 ILLUMINA ss3633694809 Oct 12, 2018 (152)
72 ILLUMINA ss3634469573 Oct 12, 2018 (152)
73 ILLUMINA ss3635386191 Oct 12, 2018 (152)
74 ILLUMINA ss3636153329 Oct 12, 2018 (152)
75 ILLUMINA ss3637137084 Oct 12, 2018 (152)
76 ILLUMINA ss3637923474 Oct 12, 2018 (152)
77 ILLUMINA ss3638975378 Oct 12, 2018 (152)
78 ILLUMINA ss3639488792 Oct 12, 2018 (152)
79 ILLUMINA ss3640176910 Oct 12, 2018 (152)
80 ILLUMINA ss3642920509 Oct 12, 2018 (152)
81 ILLUMINA ss3644572373 Oct 12, 2018 (152)
82 ILLUMINA ss3651731764 Oct 12, 2018 (152)
83 EGCUT_WGS ss3675897748 Jul 13, 2019 (153)
84 EVA_DECODE ss3692364317 Jul 13, 2019 (153)
85 ILLUMINA ss3725266338 Jul 13, 2019 (153)
86 ACPOP ss3738431729 Jul 13, 2019 (153)
87 ILLUMINA ss3744088864 Jul 13, 2019 (153)
88 ILLUMINA ss3744770380 Jul 13, 2019 (153)
89 EVA ss3749661022 Jul 13, 2019 (153)
90 PAGE_CC ss3771644651 Jul 13, 2019 (153)
91 ILLUMINA ss3772270172 Jul 13, 2019 (153)
92 PACBIO ss3787031552 Jul 13, 2019 (153)
93 PACBIO ss3792160452 Jul 13, 2019 (153)
94 PACBIO ss3797042886 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3814993750 Jul 13, 2019 (153)
96 EVA ss3832773874 Apr 26, 2020 (154)
97 HGDP ss3847427056 Apr 26, 2020 (154)
98 SGDP_PRJ ss3876884547 Apr 26, 2020 (154)
99 KRGDB ss3925317812 Apr 26, 2020 (154)
100 EVA ss3984655203 Apr 26, 2021 (155)
101 EVA ss3985549735 Apr 26, 2021 (155)
102 EVA ss4017552489 Apr 26, 2021 (155)
103 TOPMED ss4895692002 Apr 26, 2021 (155)
104 TOMMO_GENOMICS ss5203351513 Apr 26, 2021 (155)
105 1000G_HIGH_COVERAGE ss5288475796 Oct 16, 2022 (156)
106 EVA ss5315567955 Oct 16, 2022 (156)
107 EVA ss5401467440 Oct 16, 2022 (156)
108 HUGCELL_USP ss5483511091 Oct 16, 2022 (156)
109 EVA ss5510471969 Oct 16, 2022 (156)
110 1000G_HIGH_COVERAGE ss5584736436 Oct 16, 2022 (156)
111 SANFORD_IMAGENETICS ss5651824860 Oct 16, 2022 (156)
112 TOMMO_GENOMICS ss5751645499 Oct 16, 2022 (156)
113 EVA ss5799850651 Oct 16, 2022 (156)
114 YY_MCH ss5812672459 Oct 16, 2022 (156)
115 EVA ss5837059711 Oct 16, 2022 (156)
116 EVA ss5850095730 Oct 16, 2022 (156)
117 EVA ss5921164377 Oct 16, 2022 (156)
118 EVA ss5943144161 Oct 16, 2022 (156)
119 1000Genomes NC_000011.9 - 94165326 Oct 12, 2018 (152)
120 1000Genomes_30x NC_000011.10 - 94432160 Oct 16, 2022 (156)
121 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 94165326 Oct 12, 2018 (152)
122 Genome-wide autozygosity in Daghestan NC_000011.8 - 93804974 Apr 26, 2020 (154)
123 Genetic variation in the Estonian population NC_000011.9 - 94165326 Oct 12, 2018 (152)
124 The Danish reference pan genome NC_000011.9 - 94165326 Apr 26, 2020 (154)
125 gnomAD - Genomes NC_000011.10 - 94432160 Apr 26, 2021 (155)
126 Genome of the Netherlands Release 5 NC_000011.9 - 94165326 Apr 26, 2020 (154)
127 HGDP-CEPH-db Supplement 1 NC_000011.8 - 93804974 Apr 26, 2020 (154)
128 HapMap NC_000011.10 - 94432160 Apr 26, 2020 (154)
129 KOREAN population from KRGDB NC_000011.9 - 94165326 Apr 26, 2020 (154)
130 Northern Sweden NC_000011.9 - 94165326 Jul 13, 2019 (153)
131 The PAGE Study NC_000011.10 - 94432160 Jul 13, 2019 (153)
132 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 94165326 Apr 26, 2021 (155)
133 CNV burdens in cranial meningiomas NC_000011.9 - 94165326 Apr 26, 2021 (155)
134 Qatari NC_000011.9 - 94165326 Apr 26, 2020 (154)
135 SGDP_PRJ NC_000011.9 - 94165326 Apr 26, 2020 (154)
136 Siberian NC_000011.9 - 94165326 Apr 26, 2020 (154)
137 8.3KJPN NC_000011.9 - 94165326 Apr 26, 2021 (155)
138 14KJPN NC_000011.10 - 94432160 Oct 16, 2022 (156)
139 TopMed NC_000011.10 - 94432160 Apr 26, 2021 (155)
140 UK 10K study - Twins NC_000011.9 - 94165326 Oct 12, 2018 (152)
141 A Vietnamese Genetic Variation Database NC_000011.9 - 94165326 Jul 13, 2019 (153)
142 ALFA NC_000011.10 - 94432160 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)
rs60566844 May 26, 2008 (130)
rs386528776 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
12339158172 NC_000011.10:94432159:T:A NC_000011.10:94432159:T:A (self)
84438, 104948, ss160339118, ss168684949, ss207646749, ss281121823, ss286432624, ss479932339, ss825393916, ss1397613294, ss1598494299, ss1713275113, ss2635029127, ss3638975378, ss3639488792, ss3642920509, ss3847427056 NC_000011.8:93804973:T:C NC_000011.10:94432159:T:C (self)
55039491, 30544545, 21635996, 2682185, 13631031, 32495206, 11716594, 775662, 204686, 14235545, 28901527, 7666974, 61320820, 30544545, 6776196, ss225393816, ss235668467, ss242277251, ss479940361, ss480574808, ss484764366, ss536855590, ss562747013, ss658265655, ss778427620, ss782828905, ss783793731, ss832082355, ss832770355, ss833883062, ss988831242, ss1077947693, ss1342475771, ss1426720757, ss1575873359, ss1627201080, ss1670195113, ss1752039276, ss1932193615, ss1946319535, ss1959376218, ss1967425656, ss2026838978, ss2155150620, ss2627893104, ss2632872293, ss2699453048, ss2710742807, ss2903079628, ss3008581628, ss3021365187, ss3349734898, ss3625607071, ss3626724062, ss3630887355, ss3632995011, ss3633694809, ss3634469573, ss3635386191, ss3636153329, ss3637137084, ss3637923474, ss3640176910, ss3644572373, ss3651731764, ss3675897748, ss3738431729, ss3744088864, ss3744770380, ss3749661022, ss3772270172, ss3787031552, ss3792160452, ss3797042886, ss3832773874, ss3876884547, ss3925317812, ss3984655203, ss3985549735, ss4017552489, ss5203351513, ss5315567955, ss5401467440, ss5510471969, ss5651824860, ss5799850651, ss5837059711, ss5943144161 NC_000011.9:94165325:T:C NC_000011.10:94432159:T:C (self)
72262371, 388439076, 669434, 866120, 85482603, 111237658, 12339158172, ss2184690920, ss3027216670, ss3692364317, ss3725266338, ss3771644651, ss3814993750, ss4895692002, ss5288475796, ss5483511091, ss5584736436, ss5751645499, ss5812672459, ss5850095730, ss5921164377 NC_000011.10:94432159:T:C NC_000011.10:94432159:T:C (self)
ss23133654, ss66769466, ss66859231, ss67081903, ss67414705, ss70424642, ss70606648, ss71153561, ss75772633, ss85323128, ss102988512, ss121650928, ss153378759, ss159258120, ss170386929, ss172428840 NT_167190.1:39471120:T:C NC_000011.10:94432159:T:C (self)
Help

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

5 citations for rs13447720
PMID Title Author Year Journal
20597107 The association of telomere length and genetic variation in telomere biology genes. Mirabello L et al. 2010 Human mutation
23050049 Genetic and lifestyle influence on telomere length and subsequent risk of colon cancer in a case control study. Pellatt AJ et al. 2012 International journal of molecular epidemiology and genetics
27167335 Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancer. Suraweera N et al. 2016 Oncotarget
30989233 Association between polymorphisms in MRE11 and HIV-1 susceptibility and AIDS progression in a northern Chinese MSM population. Liu C et al. 2019 The Journal of antimicrobial chemotherapy
31214252 MRE11A Polymorphisms Are Associated With Subclinical Atherosclerosis and Cardiovascular Risk Factors. A Case-Control Study of the GEA Mexican Project. Vargas-Alarcón G et al. 2019 Frontiers in 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.post761+d5e8e07