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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.

rs691

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:25119648 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.432480 (114473/264690, TOPMED)
T=0.415231 (87921/211740, ALFA)
T=0.415027 (85112/205076, GENOGRAPHIC) (+ 21 more)
T=0.415181 (58068/139862, GnomAD)
C=0.39366 (11124/28258, 14KJPN)
C=0.39242 (6577/16760, 8.3KJPN)
T=0.4457 (2854/6404, 1000G_30x)
T=0.4495 (2251/5008, 1000G)
T=0.3728 (1670/4480, Estonian)
T=0.4107 (1583/3854, ALSPAC)
T=0.4029 (1494/3708, TWINSUK)
C=0.4427 (1297/2930, KOREAN)
T=0.4559 (950/2084, HGDP_Stanford)
T=0.4239 (802/1892, HapMap)
C=0.4241 (777/1832, Korea1K)
T=0.3680 (418/1136, Daghestan)
T=0.376 (375/998, GoNL)
T=0.355 (213/600, NorthernSweden)
C=0.330 (136/412, SGDP_PRJ)
T=0.380 (82/216, Qatari)
T=0.463 (99/214, Vietnamese)
T=0.33 (20/60, Ancient Sardinia)
T=0.35 (14/40, GENOME_DK)
C=0.25 (10/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IPW : Non Coding Transcript Variant
SNHG14 : Intron Variant
Publications
1 citation
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 211740 C=0.584769 T=0.415231
European Sub 178094 C=0.593333 T=0.406667
African Sub 10398 C=0.59338 T=0.40662
African Others Sub 358 C=0.615 T=0.385
African American Sub 10040 C=0.59263 T=0.40737
Asian Sub 752 C=0.472 T=0.528
East Asian Sub 574 C=0.453 T=0.547
Other Asian Sub 178 C=0.534 T=0.466
Latin American 1 Sub 990 C=0.531 T=0.469
Latin American 2 Sub 9052 C=0.4368 T=0.5632
South Asian Sub 5054 C=0.5786 T=0.4214
Other Sub 7400 C=0.5704 T=0.4296


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=0.567520 T=0.432480
Allele Frequency Aggregator Total Global 211740 C=0.584769 T=0.415231
Allele Frequency Aggregator European Sub 178094 C=0.593333 T=0.406667
Allele Frequency Aggregator African Sub 10398 C=0.59338 T=0.40662
Allele Frequency Aggregator Latin American 2 Sub 9052 C=0.4368 T=0.5632
Allele Frequency Aggregator Other Sub 7400 C=0.5704 T=0.4296
Allele Frequency Aggregator South Asian Sub 5054 C=0.5786 T=0.4214
Allele Frequency Aggregator Latin American 1 Sub 990 C=0.531 T=0.469
Allele Frequency Aggregator Asian Sub 752 C=0.472 T=0.528
Genographic Project Global Study-wide 205076 C=0.584973 T=0.415027
gnomAD - Genomes Global Study-wide 139862 C=0.584819 T=0.415181
gnomAD - Genomes European Sub 75774 C=0.60205 T=0.39795
gnomAD - Genomes African Sub 41898 C=0.59905 T=0.40095
gnomAD - Genomes American Sub 13608 C=0.48751 T=0.51249
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.5268 T=0.4732
gnomAD - Genomes East Asian Sub 3114 C=0.4682 T=0.5318
gnomAD - Genomes Other Sub 2150 C=0.5744 T=0.4256
14KJPN JAPANESE Study-wide 28258 C=0.39366 T=0.60634
8.3KJPN JAPANESE Study-wide 16760 C=0.39242 T=0.60758
1000Genomes_30x Global Study-wide 6404 C=0.5543 T=0.4457
1000Genomes_30x African Sub 1786 C=0.5929 T=0.4071
1000Genomes_30x Europe Sub 1266 C=0.6335 T=0.3665
1000Genomes_30x South Asian Sub 1202 C=0.5607 T=0.4393
1000Genomes_30x East Asian Sub 1170 C=0.4863 T=0.5137
1000Genomes_30x American Sub 980 C=0.455 T=0.545
1000Genomes Global Study-wide 5008 C=0.5505 T=0.4495
1000Genomes African Sub 1322 C=0.5840 T=0.4160
1000Genomes East Asian Sub 1008 C=0.4821 T=0.5179
1000Genomes Europe Sub 1006 C=0.6272 T=0.3728
1000Genomes South Asian Sub 978 C=0.561 T=0.439
1000Genomes American Sub 694 C=0.460 T=0.540
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6272 T=0.3728
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5893 T=0.4107
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5971 T=0.4029
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4427 T=0.5573
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.5441 T=0.4559
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.434 T=0.566
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.599 T=0.401
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.737 T=0.263
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.566 T=0.434
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.752 T=0.248
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.102 T=0.898
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.54 T=0.46
HapMap Global Study-wide 1892 C=0.5761 T=0.4239
HapMap American Sub 770 C=0.552 T=0.448
HapMap African Sub 692 C=0.649 T=0.351
HapMap Asian Sub 254 C=0.406 T=0.594
HapMap Europe Sub 176 C=0.642 T=0.358
Korean Genome Project KOREAN Study-wide 1832 C=0.4241 T=0.5759
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.6320 T=0.3680
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.670 T=0.330
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.681 T=0.319
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.516 T=0.484
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.546 T=0.454
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.53 T=0.47
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.69 T=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.624 T=0.376
Northern Sweden ACPOP Study-wide 600 C=0.645 T=0.355
SGDP_PRJ Global Study-wide 412 C=0.330 T=0.670
Qatari Global Study-wide 216 C=0.620 T=0.380
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.537 T=0.463
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 C=0.67 T=0.33
The Danish reference pan genome Danish Study-wide 40 C=0.65 T=0.35
Siberian Global Study-wide 40 C=0.25 T=0.75
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 15 NC_000015.10:g.25119648C>T
GRCh37.p13 chr 15 NC_000015.9:g.25364795C>T
PWSAS genomic region NG_002690.1:g.338739C>T
IPW RefSeqGene NG_021193.1:g.8104C>T
Gene: IPW, imprinted in Prader-Willi syndrome (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IPW transcript NR_023915.1:n.1670C>T N/A Non Coding Transcript Variant
Gene: SNHG14, small nucleolar RNA host gene 14 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SNHG14 transcript NR_146177.1: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 C= T
GRCh38.p14 chr 15 NC_000015.10:g.25119648= NC_000015.10:g.25119648C>T
GRCh37.p13 chr 15 NC_000015.9:g.25364795= NC_000015.9:g.25364795C>T
PWSAS genomic region NG_002690.1:g.338739= NG_002690.1:g.338739C>T
IPW RefSeqGene NG_021193.1:g.8104= NG_021193.1:g.8104C>T
IPW transcript NR_023915.1:n.1670= NR_023915.1:n.1670C>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#.

138 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss696 Sep 19, 2000 (36)
2 WIAF ss19392 Sep 19, 2000 (92)
3 LEE ss1511035 Oct 13, 2000 (89)
4 SC_JCM ss3867420 Sep 28, 2001 (100)
5 CGAP-GAI ss4321220 Jan 04, 2002 (102)
6 LEE ss4404725 May 29, 2002 (106)
7 CGAP-GAI ss16225674 Feb 27, 2004 (120)
8 CSHL-HAPMAP ss16677839 Feb 27, 2004 (120)
9 SSAHASNP ss21296226 Apr 05, 2004 (121)
10 PERLEGEN ss24407482 Sep 20, 2004 (123)
11 ABI ss43704343 Mar 14, 2006 (126)
12 AFFY ss66395240 Dec 01, 2006 (127)
13 ILLUMINA ss66721778 Dec 01, 2006 (127)
14 ILLUMINA ss67515440 Dec 01, 2006 (127)
15 ILLUMINA ss67880333 Dec 01, 2006 (127)
16 PERLEGEN ss69170520 May 17, 2007 (127)
17 ILLUMINA ss70895045 May 24, 2008 (130)
18 ILLUMINA ss71489010 May 17, 2007 (127)
19 ILLUMINA ss75642707 Dec 06, 2007 (129)
20 AFFY ss76139512 Dec 08, 2007 (130)
21 HGSV ss78595102 Dec 06, 2007 (129)
22 ILLUMINA ss79238386 Dec 14, 2007 (130)
23 KRIBB_YJKIM ss83344264 Dec 14, 2007 (130)
24 HGSV ss83845998 Dec 14, 2007 (130)
25 HGSV ss85938221 Dec 14, 2007 (130)
26 BCMHGSC_JDW ss90096106 Mar 24, 2008 (129)
27 BGI ss103222258 Dec 01, 2009 (131)
28 KRIBB_YJKIM ss104796516 Feb 04, 2009 (130)
29 1000GENOMES ss108674726 Jan 23, 2009 (130)
30 ILLUMINA-UK ss118162598 Feb 14, 2009 (130)
31 ILLUMINA ss122645503 Dec 01, 2009 (131)
32 ENSEMBL ss134198573 Dec 01, 2009 (131)
33 ILLUMINA ss154391323 Dec 01, 2009 (131)
34 GMI ss156330963 Dec 01, 2009 (131)
35 ILLUMINA ss159566943 Dec 01, 2009 (131)
36 ILLUMINA ss160824148 Dec 01, 2009 (131)
37 ENSEMBL ss161701496 Dec 01, 2009 (131)
38 COMPLETE_GENOMICS ss167672120 Jul 04, 2010 (132)
39 ILLUMINA ss172216832 Jul 04, 2010 (132)
40 AFFY ss172617993 Jul 04, 2010 (132)
41 ILLUMINA ss174163972 Jul 04, 2010 (132)
42 BUSHMAN ss200620515 Jul 04, 2010 (132)
43 BCM-HGSC-SUB ss207318541 Jul 04, 2010 (132)
44 1000GENOMES ss226799679 Jul 14, 2010 (132)
45 1000GENOMES ss236713509 Jul 15, 2010 (132)
46 1000GENOMES ss243113127 Jul 15, 2010 (132)
47 BL ss254844059 May 09, 2011 (134)
48 GMI ss282183744 May 04, 2012 (137)
49 GMI ss286920350 Apr 25, 2013 (138)
50 PJP ss291803266 May 09, 2011 (134)
51 ILLUMINA ss481396873 May 04, 2012 (137)
52 ILLUMINA ss481423351 May 04, 2012 (137)
53 ILLUMINA ss482402174 Sep 08, 2015 (146)
54 ILLUMINA ss485493424 May 04, 2012 (137)
55 ILLUMINA ss537408968 Sep 08, 2015 (146)
56 TISHKOFF ss564366928 Apr 25, 2013 (138)
57 SSMP ss660080063 Apr 25, 2013 (138)
58 ILLUMINA ss778585066 Sep 08, 2015 (146)
59 ILLUMINA ss783192240 Sep 08, 2015 (146)
60 ILLUMINA ss784147360 Sep 08, 2015 (146)
61 ILLUMINA ss825568904 Apr 01, 2015 (144)
62 ILLUMINA ss832452070 Sep 08, 2015 (146)
63 ILLUMINA ss833078066 Jul 13, 2019 (153)
64 ILLUMINA ss834042209 Sep 08, 2015 (146)
65 EVA-GONL ss991600504 Aug 21, 2014 (142)
66 JMKIDD_LAB ss1079983986 Aug 21, 2014 (142)
67 1000GENOMES ss1352730626 Aug 21, 2014 (142)
68 HAMMER_LAB ss1397691591 Sep 08, 2015 (146)
69 DDI ss1427568304 Apr 01, 2015 (144)
70 EVA_GENOME_DK ss1577509912 Apr 01, 2015 (144)
71 EVA_UK10K_ALSPAC ss1632623632 Apr 01, 2015 (144)
72 EVA_UK10K_TWINSUK ss1675617665 Apr 01, 2015 (144)
73 EVA_DECODE ss1695610667 Apr 01, 2015 (144)
74 EVA_SVP ss1713475746 Apr 01, 2015 (144)
75 ILLUMINA ss1752153285 Sep 08, 2015 (146)
76 WEILL_CORNELL_DGM ss1934997093 Feb 12, 2016 (147)
77 GENOMED ss1968064711 Jul 19, 2016 (147)
78 JJLAB ss2028278387 Sep 14, 2016 (149)
79 USC_VALOUEV ss2156674730 Dec 20, 2016 (150)
80 HUMAN_LONGEVITY ss2205344358 Dec 20, 2016 (150)
81 SYSTEMSBIOZJU ss2628631747 Nov 08, 2017 (151)
82 ILLUMINA ss2633205458 Nov 08, 2017 (151)
83 GRF ss2701132646 Nov 08, 2017 (151)
84 GNOMAD ss2932742761 Nov 08, 2017 (151)
85 SWEGEN ss3012971196 Nov 08, 2017 (151)
86 BIOINF_KMB_FNS_UNIBA ss3027962850 Nov 08, 2017 (151)
87 CSHL ss3351031336 Nov 08, 2017 (151)
88 ILLUMINA ss3627317743 Oct 12, 2018 (152)
89 ILLUMINA ss3631199960 Oct 12, 2018 (152)
90 ILLUMINA ss3633090638 Oct 12, 2018 (152)
91 ILLUMINA ss3633794940 Oct 12, 2018 (152)
92 ILLUMINA ss3634596796 Oct 12, 2018 (152)
93 ILLUMINA ss3635484042 Oct 12, 2018 (152)
94 ILLUMINA ss3636286896 Oct 12, 2018 (152)
95 ILLUMINA ss3637235266 Oct 12, 2018 (152)
96 ILLUMINA ss3638074526 Oct 12, 2018 (152)
97 ILLUMINA ss3639050596 Oct 12, 2018 (152)
98 ILLUMINA ss3639530390 Oct 12, 2018 (152)
99 ILLUMINA ss3640304123 Oct 12, 2018 (152)
100 ILLUMINA ss3643059351 Oct 12, 2018 (152)
101 OMUKHERJEE_ADBS ss3646469436 Oct 12, 2018 (152)
102 EGCUT_WGS ss3680139461 Jul 13, 2019 (153)
103 EVA_DECODE ss3697540137 Jul 13, 2019 (153)
104 ACPOP ss3740766935 Jul 13, 2019 (153)
105 ILLUMINA ss3744897370 Jul 13, 2019 (153)
106 EVA ss3752862036 Jul 13, 2019 (153)
107 ILLUMINA ss3772396088 Jul 13, 2019 (153)
108 PACBIO ss3787794384 Jul 13, 2019 (153)
109 PACBIO ss3792814430 Jul 13, 2019 (153)
110 PACBIO ss3797698867 Jul 13, 2019 (153)
111 KHV_HUMAN_GENOMES ss3818179588 Jul 13, 2019 (153)
112 EVA ss3834144316 Apr 27, 2020 (154)
113 EVA ss3840668588 Apr 27, 2020 (154)
114 EVA ss3846157256 Apr 27, 2020 (154)
115 HGDP ss3847517261 Apr 27, 2020 (154)
116 SGDP_PRJ ss3882503964 Apr 27, 2020 (154)
117 KRGDB ss3931626671 Apr 27, 2020 (154)
118 KOGIC ss3975811352 Apr 27, 2020 (154)
119 EVA ss3985705131 Apr 27, 2021 (155)
120 EVA ss3986066368 Apr 27, 2021 (155)
121 EVA ss4017691823 Apr 27, 2021 (155)
122 TOPMED ss4984965630 Apr 27, 2021 (155)
123 TOMMO_GENOMICS ss5215305955 Apr 27, 2021 (155)
124 EVA ss5237663449 Oct 16, 2022 (156)
125 1000G_HIGH_COVERAGE ss5297781302 Oct 16, 2022 (156)
126 GENOGRAPHIC ss5314563354 Oct 16, 2022 (156)
127 EVA ss5315769651 Oct 16, 2022 (156)
128 EVA ss5418049039 Oct 16, 2022 (156)
129 HUGCELL_USP ss5491602845 Oct 16, 2022 (156)
130 1000G_HIGH_COVERAGE ss5598852641 Oct 16, 2022 (156)
131 SANFORD_IMAGENETICS ss5657128211 Oct 16, 2022 (156)
132 TOMMO_GENOMICS ss5768854164 Oct 16, 2022 (156)
133 EVA ss5799932174 Oct 16, 2022 (156)
134 YY_MCH ss5815168027 Oct 16, 2022 (156)
135 EVA ss5827952166 Oct 16, 2022 (156)
136 EVA ss5851216781 Oct 16, 2022 (156)
137 EVA ss5875157810 Oct 16, 2022 (156)
138 EVA ss5948538060 Oct 16, 2022 (156)
139 1000Genomes NC_000015.9 - 25364795 Oct 12, 2018 (152)
140 1000Genomes_30x NC_000015.10 - 25119648 Oct 16, 2022 (156)
141 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 25364795 Oct 12, 2018 (152)
142 Genome-wide autozygosity in Daghestan NC_000015.8 - 22915888 Apr 27, 2020 (154)
143 Genetic variation in the Estonian population NC_000015.9 - 25364795 Oct 12, 2018 (152)
144 Genographic Project NC_000015.10 - 25119648 Oct 16, 2022 (156)
145 The Danish reference pan genome NC_000015.9 - 25364795 Apr 27, 2020 (154)
146 gnomAD - Genomes NC_000015.10 - 25119648 Apr 27, 2021 (155)
147 Genome of the Netherlands Release 5 NC_000015.9 - 25364795 Apr 27, 2020 (154)
148 HGDP-CEPH-db Supplement 1 NC_000015.8 - 22915888 Apr 27, 2020 (154)
149 HapMap NC_000015.10 - 25119648 Apr 27, 2020 (154)
150 KOREAN population from KRGDB NC_000015.9 - 25364795 Apr 27, 2020 (154)
151 Korean Genome Project NC_000015.10 - 25119648 Apr 27, 2020 (154)
152 Northern Sweden NC_000015.9 - 25364795 Jul 13, 2019 (153)
153 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000015.9 - 25364795 Apr 27, 2021 (155)
154 Qatari NC_000015.9 - 25364795 Apr 27, 2020 (154)
155 SGDP_PRJ NC_000015.9 - 25364795 Apr 27, 2020 (154)
156 Siberian NC_000015.9 - 25364795 Apr 27, 2020 (154)
157 8.3KJPN NC_000015.9 - 25364795 Apr 27, 2021 (155)
158 14KJPN NC_000015.10 - 25119648 Oct 16, 2022 (156)
159 TopMed NC_000015.10 - 25119648 Apr 27, 2021 (155)
160 UK 10K study - Twins NC_000015.9 - 25364795 Oct 12, 2018 (152)
161 A Vietnamese Genetic Variation Database NC_000015.9 - 25364795 Jul 13, 2019 (153)
162 ALFA NC_000015.10 - 25119648 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)
rs16984 Jan 18, 2001 (92)
rs1127106 Nov 09, 2000 (89)
rs3182642 Jul 03, 2002 (106)
rs17789188 Oct 08, 2004 (123)
rs56526798 May 24, 2008 (130)
rs57761015 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
161825, 195153, ss66395240, ss76139512, ss78595102, ss83845998, ss85938221, ss90096106, ss108674726, ss118162598, ss167672120, ss172617993, ss200620515, ss207318541, ss254844059, ss282183744, ss286920350, ss291803266, ss481396873, ss825568904, ss1397691591, ss1695610667, ss1713475746, ss3639050596, ss3639530390, ss3643059351, ss3847517261 NC_000015.8:22915887:C:T NC_000015.10:25119647:C:T (self)
65774308, 36522798, 25877709, 3782874, 16314881, 38804065, 14051800, 931058, 17039023, 34520944, 9191084, 73275262, 36522798, 8125412, ss226799679, ss236713509, ss243113127, ss481423351, ss482402174, ss485493424, ss537408968, ss564366928, ss660080063, ss778585066, ss783192240, ss784147360, ss832452070, ss833078066, ss834042209, ss991600504, ss1079983986, ss1352730626, ss1427568304, ss1577509912, ss1632623632, ss1675617665, ss1752153285, ss1934997093, ss1968064711, ss2028278387, ss2156674730, ss2628631747, ss2633205458, ss2701132646, ss2932742761, ss3012971196, ss3351031336, ss3627317743, ss3631199960, ss3633090638, ss3633794940, ss3634596796, ss3635484042, ss3636286896, ss3637235266, ss3638074526, ss3640304123, ss3646469436, ss3680139461, ss3740766935, ss3744897370, ss3752862036, ss3772396088, ss3787794384, ss3792814430, ss3797698867, ss3834144316, ss3840668588, ss3882503964, ss3931626671, ss3985705131, ss3986066368, ss4017691823, ss5215305955, ss5315769651, ss5418049039, ss5657128211, ss5799932174, ss5827952166, ss5948538060 NC_000015.9:25364794:C:T NC_000015.10:25119647:C:T (self)
86378576, 117960, 463651886, 1227874, 32189353, 102691268, 200511290, 12889650537, ss2205344358, ss3027962850, ss3697540137, ss3818179588, ss3846157256, ss3975811352, ss4984965630, ss5237663449, ss5297781302, ss5314563354, ss5491602845, ss5598852641, ss5768854164, ss5815168027, ss5851216781, ss5875157810 NC_000015.10:25119647:C:T NC_000015.10:25119647:C:T (self)
ss16677839, ss21296226 NT_026446.12:1799593:C:T NC_000015.10:25119647:C:T (self)
ss696, ss19392, ss1511035, ss3867420, ss4321220, ss4404725, ss16225674, ss24407482, ss43704343, ss66721778, ss67515440, ss67880333, ss69170520, ss70895045, ss71489010, ss75642707, ss79238386, ss83344264, ss103222258, ss104796516, ss122645503, ss134198573, ss154391323, ss156330963, ss159566943, ss160824148, ss161701496, ss172216832, ss174163972 NT_026446.14:1799941:C:T NC_000015.10:25119647: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.

1 citation for rs691
PMID Title Author Year Journal
21042416 Evaluation of allelic expression of imprinted genes in adult human blood. Frost JM et al. 2010 PloS one
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