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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.

rs214101

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:17267807 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.477079 (126278/264690, TOPMED)
G=0.464282 (64850/139678, GnomAD)
A=0.46382 (36464/78616, PAGE_STUDY) (+ 21 more)
A=0.24057 (6798/28258, 14KJPN)
G=0.43631 (10584/24258, ALFA)
A=0.24257 (4065/16758, 8.3KJPN)
A=0.4592 (2941/6404, 1000G_30x)
A=0.4507 (2257/5008, 1000G)
G=0.3850 (1725/4480, Estonian)
G=0.4146 (1598/3854, ALSPAC)
G=0.3991 (1480/3708, TWINSUK)
A=0.2003 (587/2930, KOREAN)
A=0.4271 (808/1892, HapMap)
A=0.2036 (373/1832, Korea1K)
G=0.4471 (507/1134, Daghestan)
G=0.420 (419/998, GoNL)
A=0.208 (163/784, PRJEB37584)
G=0.415 (249/600, NorthernSweden)
A=0.286 (126/440, SGDP_PRJ)
G=0.389 (84/216, Qatari)
A=0.219 (46/210, Vietnamese)
A=0.45 (34/76, Ancient Sardinia)
A=0.42 (17/40, GENOME_DK)
A=0.36 (13/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 24258 A=0.56369 G=0.43631, T=0.00000
European Sub 17872 A=0.59725 G=0.40275, T=0.00000
African Sub 4112 A=0.4531 G=0.5469, T=0.0000
African Others Sub 132 A=0.485 G=0.515, T=0.000
African American Sub 3980 A=0.4520 G=0.5480, T=0.0000
Asian Sub 160 A=0.156 G=0.844, T=0.000
East Asian Sub 132 A=0.129 G=0.871, T=0.000
Other Asian Sub 28 A=0.29 G=0.71, T=0.00
Latin American 1 Sub 168 A=0.506 G=0.494, T=0.000
Latin American 2 Sub 670 A=0.542 G=0.458, T=0.000
South Asian Sub 106 A=0.434 G=0.566, T=0.000
Other Sub 1170 A=0.5282 G=0.4718, T=0.0000


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 A=0.522921 G=0.477079
gnomAD - Genomes Global Study-wide 139678 A=0.535718 G=0.464282
gnomAD - Genomes European Sub 75710 A=0.59198 G=0.40802
gnomAD - Genomes African Sub 41796 A=0.44899 G=0.55101
gnomAD - Genomes American Sub 13586 A=0.58317 G=0.41683
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.4862 G=0.5138
gnomAD - Genomes East Asian Sub 3120 A=0.1885 G=0.8115
gnomAD - Genomes Other Sub 2142 A=0.5210 G=0.4790
The PAGE Study Global Study-wide 78616 A=0.46382 G=0.53618
The PAGE Study AfricanAmerican Sub 32450 A=0.44696 G=0.55304
The PAGE Study Mexican Sub 10808 A=0.55098 G=0.44902
The PAGE Study Asian Sub 8318 A=0.2377 G=0.7623
The PAGE Study PuertoRican Sub 7916 A=0.5927 G=0.4073
The PAGE Study NativeHawaiian Sub 4534 A=0.2640 G=0.7360
The PAGE Study Cuban Sub 4224 A=0.5753 G=0.4247
The PAGE Study Dominican Sub 3824 A=0.5421 G=0.4579
The PAGE Study CentralAmerican Sub 2446 A=0.5691 G=0.4309
The PAGE Study SouthAmerican Sub 1980 A=0.5828 G=0.4172
The PAGE Study NativeAmerican Sub 1260 A=0.5460 G=0.4540
The PAGE Study SouthAsian Sub 856 A=0.470 G=0.530
14KJPN JAPANESE Study-wide 28258 A=0.24057 G=0.75943
Allele Frequency Aggregator Total Global 24258 A=0.56369 G=0.43631, T=0.00000
Allele Frequency Aggregator European Sub 17872 A=0.59725 G=0.40275, T=0.00000
Allele Frequency Aggregator African Sub 4112 A=0.4531 G=0.5469, T=0.0000
Allele Frequency Aggregator Other Sub 1170 A=0.5282 G=0.4718, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 670 A=0.542 G=0.458, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.506 G=0.494, T=0.000
Allele Frequency Aggregator Asian Sub 160 A=0.156 G=0.844, T=0.000
Allele Frequency Aggregator South Asian Sub 106 A=0.434 G=0.566, T=0.000
8.3KJPN JAPANESE Study-wide 16758 A=0.24257 G=0.75743
1000Genomes_30x Global Study-wide 6404 A=0.4592 G=0.5408
1000Genomes_30x African Sub 1786 A=0.4390 G=0.5610
1000Genomes_30x Europe Sub 1266 A=0.6264 G=0.3736
1000Genomes_30x South Asian Sub 1202 A=0.4476 G=0.5524
1000Genomes_30x East Asian Sub 1170 A=0.2000 G=0.8000
1000Genomes_30x American Sub 980 A=0.604 G=0.396
1000Genomes Global Study-wide 5008 A=0.4507 G=0.5493
1000Genomes African Sub 1322 A=0.4365 G=0.5635
1000Genomes East Asian Sub 1008 A=0.1954 G=0.8046
1000Genomes Europe Sub 1006 A=0.6252 G=0.3748
1000Genomes South Asian Sub 978 A=0.450 G=0.550
1000Genomes American Sub 694 A=0.597 G=0.403
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6150 G=0.3850
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5854 G=0.4146
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6009 G=0.3991
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.2003 C=0.0000, G=0.7997, T=0.0000
HapMap Global Study-wide 1892 A=0.4271 G=0.5729
HapMap American Sub 770 A=0.461 G=0.539
HapMap African Sub 692 A=0.421 G=0.579
HapMap Asian Sub 254 A=0.193 G=0.807
HapMap Europe Sub 176 A=0.642 G=0.358
Korean Genome Project KOREAN Study-wide 1832 A=0.2036 G=0.7964
Genome-wide autozygosity in Daghestan Global Study-wide 1134 A=0.5529 G=0.4471
Genome-wide autozygosity in Daghestan Daghestan Sub 626 A=0.580 G=0.420
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.569 G=0.431
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.369 G=0.631
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.565 G=0.435
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.54 G=0.46
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.64 G=0.36
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.580 G=0.420
CNV burdens in cranial meningiomas Global Study-wide 784 A=0.208 G=0.792
CNV burdens in cranial meningiomas CRM Sub 784 A=0.208 G=0.792
Northern Sweden ACPOP Study-wide 600 A=0.585 G=0.415
SGDP_PRJ Global Study-wide 440 A=0.286 G=0.714
Qatari Global Study-wide 216 A=0.611 G=0.389
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.219 G=0.781
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 76 A=0.45 G=0.55
The Danish reference pan genome Danish Study-wide 40 A=0.42 G=0.57
Siberian Global Study-wide 36 A=0.36 G=0.64
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.17267807A>C
GRCh38.p14 chr 11 NC_000011.10:g.17267807A>G
GRCh38.p14 chr 11 NC_000011.10:g.17267807A>T
GRCh37.p13 chr 11 NC_000011.9:g.17289354A>C
GRCh37.p13 chr 11 NC_000011.9:g.17289354A>G
GRCh37.p13 chr 11 NC_000011.9:g.17289354A>T
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 A= C G T
GRCh38.p14 chr 11 NC_000011.10:g.17267807= NC_000011.10:g.17267807A>C NC_000011.10:g.17267807A>G NC_000011.10:g.17267807A>T
GRCh37.p13 chr 11 NC_000011.9:g.17289354= NC_000011.9:g.17289354A>C NC_000011.9:g.17289354A>G NC_000011.9:g.17289354A>T
NUCB2 transcript variant X5 XM_005252945.1:c.-498-1378= XM_005252945.1:c.-498-1378A>C XM_005252945.1:c.-498-1378A>G XM_005252945.1:c.-498-1378A>T
NUCB2 transcript variant X7 XM_005252947.1:c.-302-1378= XM_005252947.1:c.-302-1378A>C XM_005252947.1:c.-302-1378A>G XM_005252947.1:c.-302-1378A>T
NUCB2 transcript variant X8 XM_005252948.1:c.-382-1378= XM_005252948.1:c.-382-1378A>C XM_005252948.1:c.-382-1378A>G XM_005252948.1:c.-382-1378A>T
NUCB2 transcript variant X9 XM_005252949.1:c.-982-261= XM_005252949.1:c.-982-261A>C XM_005252949.1:c.-982-261A>G XM_005252949.1:c.-982-261A>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#.

90 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss279448 Jul 12, 2000 (79)
2 SC_JCM ss547542 Jul 16, 2000 (87)
3 KWOK ss1236127 Oct 04, 2000 (86)
4 KWOK ss1834123 Oct 18, 2000 (87)
5 SC_SNP ss16106558 Feb 27, 2004 (120)
6 PERLEGEN ss46550356 Mar 15, 2006 (126)
7 ILLUMINA ss65717934 Oct 16, 2006 (127)
8 ILLUMINA ss74993322 Dec 07, 2007 (129)
9 HGSV ss84567556 Dec 15, 2007 (130)
10 BGI ss106724358 Feb 06, 2009 (130)
11 1000GENOMES ss110086024 Jan 24, 2009 (130)
12 1000GENOMES ss114265607 Jan 25, 2009 (130)
13 KRIBB_YJKIM ss119344607 Dec 01, 2009 (131)
14 ILLUMINA-UK ss119702892 Dec 01, 2009 (131)
15 ILLUMINA ss120242604 Dec 01, 2009 (131)
16 GMI ss155979800 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss167918539 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss169204200 Jul 04, 2010 (132)
19 ILLUMINA ss173137081 Jul 04, 2010 (132)
20 BUSHMAN ss202441139 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss207821614 Jul 04, 2010 (132)
22 1000GENOMES ss225115041 Jul 14, 2010 (132)
23 1000GENOMES ss235463870 Jul 15, 2010 (132)
24 1000GENOMES ss242113952 Jul 15, 2010 (132)
25 ILLUMINA ss244258689 Jul 04, 2010 (132)
26 GMI ss280901727 May 04, 2012 (137)
27 ILLUMINA ss410786930 Sep 17, 2011 (135)
28 ILLUMINA ss537044040 Sep 08, 2015 (146)
29 TISHKOFF ss562413476 Apr 25, 2013 (138)
30 SSMP ss657831227 Apr 25, 2013 (138)
31 EVA-GONL ss988255284 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1077535704 Aug 21, 2014 (142)
33 1000GENOMES ss1340293182 Aug 21, 2014 (142)
34 HAMMER_LAB ss1397601041 Sep 08, 2015 (146)
35 DDI ss1426551005 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1575551269 Apr 01, 2015 (144)
37 EVA_DECODE ss1597933328 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1626084807 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1669078840 Apr 01, 2015 (144)
40 EVA_SVP ss1713237399 Apr 01, 2015 (144)
41 HAMMER_LAB ss1806712999 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1931616608 Feb 12, 2016 (147)
43 ILLUMINA ss1959329122 Feb 12, 2016 (147)
44 GENOMED ss1967303847 Jul 19, 2016 (147)
45 JJLAB ss2026552385 Sep 14, 2016 (149)
46 USC_VALOUEV ss2154840352 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2180551680 Dec 20, 2016 (150)
48 SYSTEMSBIOZJU ss2627746199 Nov 08, 2017 (151)
49 GRF ss2699113679 Nov 08, 2017 (151)
50 GNOMAD ss2896828863 Nov 08, 2017 (151)
51 SWEGEN ss3007669180 Nov 08, 2017 (151)
52 ILLUMINA ss3021312918 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3027072265 Nov 08, 2017 (151)
54 CSHL ss3349474666 Nov 08, 2017 (151)
55 ILLUMINA ss3626610274 Oct 12, 2018 (152)
56 ILLUMINA ss3637893832 Oct 12, 2018 (152)
57 ILLUMINA ss3642893347 Oct 12, 2018 (152)
58 ILLUMINA ss3651675318 Oct 12, 2018 (152)
59 EGCUT_WGS ss3675068964 Jul 13, 2019 (153)
60 EVA_DECODE ss3691300375 Jul 13, 2019 (153)
61 ILLUMINA ss3725220748 Jul 13, 2019 (153)
62 ACPOP ss3737959043 Jul 13, 2019 (153)
63 EVA ss3748996965 Jul 13, 2019 (153)
64 PAGE_CC ss3771609081 Jul 13, 2019 (153)
65 PACBIO ss3786880201 Jul 13, 2019 (153)
66 PACBIO ss3792031859 Jul 13, 2019 (153)
67 PACBIO ss3796913920 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3814344141 Jul 13, 2019 (153)
69 EVA ss3832501622 Apr 26, 2020 (154)
70 EVA ss3839798895 Apr 26, 2020 (154)
71 EVA ss3845275553 Apr 26, 2020 (154)
72 SGDP_PRJ ss3875736833 Apr 26, 2020 (154)
73 KRGDB ss3923975558 Apr 26, 2020 (154)
74 KOGIC ss3969293881 Apr 26, 2020 (154)
75 EVA ss3984646949 Apr 26, 2021 (155)
76 EVA ss3985521230 Apr 26, 2021 (155)
77 TOPMED ss4876751118 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5200878829 Apr 26, 2021 (155)
79 1000G_HIGH_COVERAGE ss5286554605 Oct 16, 2022 (156)
80 EVA ss5398020839 Oct 16, 2022 (156)
81 HUGCELL_USP ss5481841919 Oct 16, 2022 (156)
82 EVA ss5510266132 Oct 16, 2022 (156)
83 1000G_HIGH_COVERAGE ss5581757162 Oct 16, 2022 (156)
84 SANFORD_IMAGENETICS ss5650723196 Oct 16, 2022 (156)
85 TOMMO_GENOMICS ss5747688154 Oct 16, 2022 (156)
86 YY_MCH ss5812166388 Oct 16, 2022 (156)
87 EVA ss5836322527 Oct 16, 2022 (156)
88 EVA ss5849876808 Oct 16, 2022 (156)
89 EVA ss5919006669 Oct 16, 2022 (156)
90 EVA ss5942032643 Oct 16, 2022 (156)
91 1000Genomes NC_000011.9 - 17289354 Oct 12, 2018 (152)
92 1000Genomes_30x NC_000011.10 - 17267807 Oct 16, 2022 (156)
93 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 17289354 Oct 12, 2018 (152)
94 Genome-wide autozygosity in Daghestan NC_000011.8 - 17245930 Apr 26, 2020 (154)
95 Genetic variation in the Estonian population NC_000011.9 - 17289354 Oct 12, 2018 (152)
96 The Danish reference pan genome NC_000011.9 - 17289354 Apr 26, 2020 (154)
97 gnomAD - Genomes NC_000011.10 - 17267807 Apr 26, 2021 (155)
98 Genome of the Netherlands Release 5 NC_000011.9 - 17289354 Apr 26, 2020 (154)
99 HapMap NC_000011.10 - 17267807 Apr 26, 2020 (154)
100 KOREAN population from KRGDB NC_000011.9 - 17289354 Apr 26, 2020 (154)
101 Korean Genome Project NC_000011.10 - 17267807 Apr 26, 2020 (154)
102 Northern Sweden NC_000011.9 - 17289354 Jul 13, 2019 (153)
103 The PAGE Study NC_000011.10 - 17267807 Jul 13, 2019 (153)
104 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 17289354 Apr 26, 2021 (155)
105 CNV burdens in cranial meningiomas NC_000011.9 - 17289354 Apr 26, 2021 (155)
106 Qatari NC_000011.9 - 17289354 Apr 26, 2020 (154)
107 SGDP_PRJ NC_000011.9 - 17289354 Apr 26, 2020 (154)
108 Siberian NC_000011.9 - 17289354 Apr 26, 2020 (154)
109 8.3KJPN NC_000011.9 - 17289354 Apr 26, 2021 (155)
110 14KJPN NC_000011.10 - 17267807 Oct 16, 2022 (156)
111 TopMed NC_000011.10 - 17267807 Apr 26, 2021 (155)
112 UK 10K study - Twins NC_000011.9 - 17289354 Oct 12, 2018 (152)
113 A Vietnamese Genetic Variation Database NC_000011.9 - 17289354 Jul 13, 2019 (153)
114 ALFA NC_000011.10 - 17267807 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)
rs416293 Oct 23, 2000 (87)
rs60650652 May 26, 2008 (130)
rs386558513 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
31152952, ss3923975558 NC_000011.9:17289353:A:C NC_000011.10:17267806:A:C (self)
72338, ss84567556, ss110086024, ss114265607, ss119702892, ss167918539, ss169204200, ss202441139, ss207821614, ss244258689, ss280901727, ss1397601041, ss1597933328, ss1713237399, ss3642893347 NC_000011.8:17245929:A:G NC_000011.10:17267806:A:G (self)
52782261, 29320614, 20807212, 2461943, 13073142, 31152952, 11243908, 747157, 196423, 13658538, 27753813, 7356706, 58848136, 29320614, 6508700, ss225115041, ss235463870, ss242113952, ss537044040, ss562413476, ss657831227, ss988255284, ss1077535704, ss1340293182, ss1426551005, ss1575551269, ss1626084807, ss1669078840, ss1806712999, ss1931616608, ss1959329122, ss1967303847, ss2026552385, ss2154840352, ss2627746199, ss2699113679, ss2896828863, ss3007669180, ss3021312918, ss3349474666, ss3626610274, ss3637893832, ss3651675318, ss3675068964, ss3737959043, ss3748996965, ss3786880201, ss3792031859, ss3796913920, ss3832501622, ss3839798895, ss3875736833, ss3923975558, ss3984646949, ss3985521230, ss5200878829, ss5398020839, ss5510266132, ss5650723196, ss5836322527, ss5942032643 NC_000011.9:17289353:A:G NC_000011.10:17267806:A:G (self)
69283097, 372626709, 559427, 25671882, 830550, 81525258, 92296774, 906049290, ss2180551680, ss3027072265, ss3691300375, ss3725220748, ss3771609081, ss3814344141, ss3845275553, ss3969293881, ss4876751118, ss5286554605, ss5481841919, ss5581757162, ss5747688154, ss5812166388, ss5849876808, ss5919006669 NC_000011.10:17267806:A:G NC_000011.10:17267806:A:G (self)
ss16106558 NT_009237.16:16053293:A:G NC_000011.10:17267806:A:G (self)
ss279448, ss547542, ss1236127, ss1834123, ss46550356, ss65717934, ss74993322, ss106724358, ss119344607, ss120242604, ss155979800, ss173137081, ss410786930 NT_009237.18:17229353:A:G NC_000011.10:17267806:A:G (self)
31152952, ss3923975558 NC_000011.9:17289353:A:T NC_000011.10:17267806:A:T (self)
906049290 NC_000011.10:17267806:A:T NC_000011.10:17267806:A: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 rs214101
PMID Title Author Year Journal
20678250 Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees. Coon H et al. 2010 Molecular autism
21459029 Association between polymorphisms of the Nesfatin gene, NUCB2, and obesity in men. Zegers D et al. 2011 Molecular genetics and metabolism
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