Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs734999

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:2581777 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.487455 (160516/329294, ALFA)
C=0.416079 (110132/264690, TOPMED)
C=0.421584 (58983/139908, GnomAD) (+ 18 more)
C=0.35464 (27908/78694, PAGE_STUDY)
C=0.48538 (8135/16760, 8.3KJPN)
C=0.3554 (1780/5008, 1000G)
T=0.4703 (2107/4480, Estonian)
T=0.4795 (1848/3854, ALSPAC)
T=0.4916 (1823/3708, TWINSUK)
T=0.4727 (1385/2930, KOREAN)
C=0.4031 (840/2084, HGDP_Stanford)
C=0.3325 (629/1892, HapMap)
T=0.451 (450/998, GoNL)
T=0.475 (358/754, PRJEB37584)
T=0.480 (288/600, NorthernSweden)
C=0.203 (94/464, SGDP_PRJ)
C=0.338 (73/216, Qatari)
T=0.477 (102/214, Vietnamese)
T=0.38 (28/74, Ancient Sardinia)
C=0.36 (15/42, Siberian)
T=0.45 (18/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC100996583 : Intron Variant
Publications
4 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.2581777C>G
GRCh38.p13 chr 1 NC_000001.11:g.2581777C>T
GRCh37.p13 chr 1 NC_000001.10:g.2513216C>G
GRCh37.p13 chr 1 NC_000001.10:g.2513216C>T
GRCh38.p13 chr 1 alt locus HSCHR1_1_CTG3 NT_187515.1:g.132967C>G
GRCh38.p13 chr 1 alt locus HSCHR1_1_CTG3 NT_187515.1:g.132967C>T
Gene: LOC100996583, uncharacterized LOC100996583 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100996583 transcript NR_121638.1: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

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 329294 C=0.512545 G=0.000000, T=0.487455
European Sub 282808 C=0.529189 G=0.000000, T=0.470811
African Sub 10166 C=0.19437 G=0.00000, T=0.80563
African Others Sub 378 C=0.116 G=0.000, T=0.884
African American Sub 9788 C=0.1974 G=0.0000, T=0.8026
Asian Sub 6872 C=0.5038 G=0.0000, T=0.4962
East Asian Sub 4934 C=0.5231 G=0.0000, T=0.4769
Other Asian Sub 1938 C=0.4546 G=0.0000, T=0.5454
Latin American 1 Sub 1134 C=0.4198 G=0.0000, T=0.5802
Latin American 2 Sub 7216 C=0.4972 G=0.0000, T=0.5028
South Asian Sub 5224 C=0.3601 G=0.0000, T=0.6399
Other Sub 15874 C=0.48734 G=0.00000, T=0.51266


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=0.416079 T=0.583921
gnomAD - Genomes Global Study-wide 139908 C=0.421584 T=0.578416
gnomAD - Genomes European Sub 75758 C=0.52619 T=0.47381
gnomAD - Genomes African Sub 41922 C=0.20743 T=0.79257
gnomAD - Genomes American Sub 13638 C=0.45359 T=0.54641
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.5470 T=0.4530
gnomAD - Genomes East Asian Sub 3124 C=0.4744 T=0.5256
gnomAD - Genomes Other Sub 2144 C=0.4380 T=0.5620
The PAGE Study Global Study-wide 78694 C=0.35464 T=0.64536
The PAGE Study AfricanAmerican Sub 32512 C=0.21115 T=0.78885
The PAGE Study Mexican Sub 10810 C=0.49611 T=0.50389
The PAGE Study Asian Sub 8318 C=0.4692 T=0.5308
The PAGE Study PuertoRican Sub 7916 C=0.4405 T=0.5595
The PAGE Study NativeHawaiian Sub 4534 C=0.4793 T=0.5207
The PAGE Study Cuban Sub 4228 C=0.4617 T=0.5383
The PAGE Study Dominican Sub 3828 C=0.3699 T=0.6301
The PAGE Study CentralAmerican Sub 2450 C=0.4261 T=0.5739
The PAGE Study SouthAmerican Sub 1982 C=0.4319 T=0.5681
The PAGE Study NativeAmerican Sub 1260 C=0.4611 T=0.5389
The PAGE Study SouthAsian Sub 856 C=0.313 T=0.687
8.3KJPN JAPANESE Study-wide 16760 C=0.48538 T=0.51462
1000Genomes Global Study-wide 5008 C=0.3554 T=0.6446
1000Genomes African Sub 1322 C=0.1415 T=0.8585
1000Genomes East Asian Sub 1008 C=0.4325 T=0.5675
1000Genomes Europe Sub 1006 C=0.5308 T=0.4692
1000Genomes South Asian Sub 978 C=0.311 T=0.689
1000Genomes American Sub 694 C=0.460 T=0.540
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5297 T=0.4703
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5205 T=0.4795
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5084 T=0.4916
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5273 T=0.4727
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.4031 T=0.5969
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.451 T=0.549
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.401 T=0.599
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.449 T=0.551
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.516 T=0.484
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.174 T=0.826
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.435 T=0.565
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.06 T=0.94
HapMap Global Study-wide 1892 C=0.3325 T=0.6675
HapMap American Sub 770 C=0.417 T=0.583
HapMap African Sub 692 C=0.136 T=0.864
HapMap Asian Sub 254 C=0.488 T=0.512
HapMap Europe Sub 176 C=0.511 T=0.489
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.549 T=0.451
CNV burdens in cranial meningiomas Global Study-wide 754 C=0.525 T=0.475
CNV burdens in cranial meningiomas CRM Sub 754 C=0.525 T=0.475
Northern Sweden ACPOP Study-wide 600 C=0.520 T=0.480
SGDP_PRJ Global Study-wide 464 C=0.203 T=0.797
Qatari Global Study-wide 216 C=0.338 T=0.662
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.523 T=0.477
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 74 C=0.62 T=0.38
Siberian Global Study-wide 42 C=0.36 T=0.64
The Danish reference pan genome Danish Study-wide 40 C=0.55 T=0.45
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= G T
GRCh38.p13 chr 1 NC_000001.11:g.2581777= NC_000001.11:g.2581777C>G NC_000001.11:g.2581777C>T
GRCh37.p13 chr 1 NC_000001.10:g.2513216= NC_000001.10:g.2513216C>G NC_000001.10:g.2513216C>T
GRCh38.p13 chr 1 alt locus HSCHR1_1_CTG3 NT_187515.1:g.132967= NT_187515.1:g.132967C>G NT_187515.1:g.132967C>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#.

134 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss81267 Oct 05, 2000 (86)
2 CSHL-HAPMAP ss19118609 Feb 27, 2004 (120)
3 ABI ss44027848 Mar 14, 2006 (126)
4 ILLUMINA ss65719795 Oct 14, 2006 (127)
5 ILLUMINA ss67572475 Nov 29, 2006 (127)
6 ILLUMINA ss67953266 Nov 29, 2006 (127)
7 ILLUMINA ss68276392 Dec 12, 2006 (127)
8 ILLUMINA ss70924835 May 26, 2008 (130)
9 ILLUMINA ss71525595 May 16, 2007 (127)
10 ILLUMINA ss75761573 Dec 06, 2007 (129)
11 HGSV ss80116151 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss83540267 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss87166748 Mar 23, 2008 (129)
14 BGI ss105113754 Dec 01, 2009 (131)
15 1000GENOMES ss107942598 Jan 22, 2009 (130)
16 1000GENOMES ss109952937 Jan 24, 2009 (130)
17 ILLUMINA-UK ss118445573 Feb 14, 2009 (130)
18 ILLUMINA ss120244560 Dec 01, 2009 (131)
19 ENSEMBL ss137759305 Dec 01, 2009 (131)
20 ILLUMINA ss154421813 Dec 01, 2009 (131)
21 GMI ss154544683 Dec 01, 2009 (131)
22 ILLUMINA ss159596913 Dec 01, 2009 (131)
23 ILLUMINA ss160875595 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss162993838 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss165996065 Jul 04, 2010 (132)
26 ILLUMINA ss174353089 Jul 04, 2010 (132)
27 BUSHMAN ss197907681 Jul 04, 2010 (132)
28 1000GENOMES ss218196967 Jul 14, 2010 (132)
29 1000GENOMES ss230400099 Jul 14, 2010 (132)
30 1000GENOMES ss238119300 Jul 15, 2010 (132)
31 ILLUMINA ss244255176 Jul 04, 2010 (132)
32 GMI ss275686873 May 04, 2012 (137)
33 GMI ss283989617 Apr 25, 2013 (138)
34 PJP ss290496377 May 09, 2011 (134)
35 ILLUMINA ss481554078 May 04, 2012 (137)
36 ILLUMINA ss481583370 May 04, 2012 (137)
37 ILLUMINA ss482555827 Sep 08, 2015 (146)
38 ILLUMINA ss485572037 May 04, 2012 (137)
39 EXOME_CHIP ss491284769 May 04, 2012 (137)
40 ILLUMINA ss537467254 Sep 08, 2015 (146)
41 TISHKOFF ss553725089 Apr 25, 2013 (138)
42 SSMP ss647528069 Apr 25, 2013 (138)
43 ILLUMINA ss778601934 Sep 08, 2015 (146)
44 ILLUMINA ss780686482 Sep 08, 2015 (146)
45 ILLUMINA ss783231578 Sep 08, 2015 (146)
46 ILLUMINA ss783360007 Sep 08, 2015 (146)
47 ILLUMINA ss784185730 Sep 08, 2015 (146)
48 ILLUMINA ss832491999 Sep 08, 2015 (146)
49 ILLUMINA ss833107928 Jul 12, 2019 (153)
50 ILLUMINA ss834059230 Sep 08, 2015 (146)
51 EVA-GONL ss974785106 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1067620575 Aug 21, 2014 (142)
53 1000GENOMES ss1289406681 Aug 21, 2014 (142)
54 DDI ss1425689470 Apr 01, 2015 (144)
55 EVA_GENOME_DK ss1573856239 Apr 01, 2015 (144)
56 EVA_DECODE ss1584144729 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1599406175 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1642400208 Apr 01, 2015 (144)
59 EVA_SVP ss1712306158 Apr 01, 2015 (144)
60 ILLUMINA ss1751912616 Sep 08, 2015 (146)
61 ILLUMINA ss1751912617 Sep 08, 2015 (146)
62 HAMMER_LAB ss1793751059 Sep 08, 2015 (146)
63 ILLUMINA ss1917721474 Feb 12, 2016 (147)
64 WEILL_CORNELL_DGM ss1917979039 Feb 12, 2016 (147)
65 ILLUMINA ss1945982437 Feb 12, 2016 (147)
66 ILLUMINA ss1958233207 Feb 12, 2016 (147)
67 GENOMED ss1966669527 Jul 19, 2016 (147)
68 JJLAB ss2019506045 Sep 14, 2016 (149)
69 ILLUMINA ss2094839833 Dec 20, 2016 (150)
70 ILLUMINA ss2094949346 Dec 20, 2016 (150)
71 USC_VALOUEV ss2147494874 Dec 20, 2016 (150)
72 HUMAN_LONGEVITY ss2159487506 Dec 20, 2016 (150)
73 TOPMED ss2321642497 Dec 20, 2016 (150)
74 SYSTEMSBIOZJU ss2624268922 Nov 08, 2017 (151)
75 ILLUMINA ss2632467161 Nov 08, 2017 (151)
76 GRF ss2697386781 Nov 08, 2017 (151)
77 GNOMAD ss2750838413 Nov 08, 2017 (151)
78 AFFY ss2984842112 Nov 08, 2017 (151)
79 AFFY ss2985495513 Nov 08, 2017 (151)
80 SWEGEN ss2986178494 Nov 08, 2017 (151)
81 ILLUMINA ss3021046114 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3023516968 Nov 08, 2017 (151)
83 TOPMED ss3066845073 Nov 08, 2017 (151)
84 TOPMED ss3066845074 Nov 08, 2017 (151)
85 CSHL ss3343281584 Nov 08, 2017 (151)
86 ILLUMINA ss3626009586 Oct 11, 2018 (152)
87 ILLUMINA ss3626009587 Oct 11, 2018 (152)
88 ILLUMINA ss3630506784 Oct 11, 2018 (152)
89 ILLUMINA ss3632878291 Oct 11, 2018 (152)
90 ILLUMINA ss3633571825 Oct 11, 2018 (152)
91 ILLUMINA ss3634302908 Oct 11, 2018 (152)
92 ILLUMINA ss3634302909 Oct 11, 2018 (152)
93 ILLUMINA ss3635266015 Oct 11, 2018 (152)
94 ILLUMINA ss3635979279 Oct 11, 2018 (152)
95 ILLUMINA ss3637016362 Oct 11, 2018 (152)
96 ILLUMINA ss3637733243 Oct 11, 2018 (152)
97 ILLUMINA ss3638888019 Oct 11, 2018 (152)
98 ILLUMINA ss3639756901 Oct 11, 2018 (152)
99 ILLUMINA ss3640010273 Oct 11, 2018 (152)
100 ILLUMINA ss3640010274 Oct 11, 2018 (152)
101 ILLUMINA ss3640973423 Oct 11, 2018 (152)
102 ILLUMINA ss3641267236 Oct 11, 2018 (152)
103 ILLUMINA ss3642747473 Oct 11, 2018 (152)
104 ILLUMINA ss3643810829 Oct 11, 2018 (152)
105 ILLUMINA ss3644478289 Oct 11, 2018 (152)
106 ILLUMINA ss3651368412 Oct 11, 2018 (152)
107 ILLUMINA ss3651368413 Oct 11, 2018 (152)
108 ILLUMINA ss3653615920 Oct 11, 2018 (152)
109 EGCUT_WGS ss3654285619 Jul 12, 2019 (153)
110 EVA_DECODE ss3686026368 Jul 12, 2019 (153)
111 ILLUMINA ss3724989869 Jul 12, 2019 (153)
112 ACPOP ss3726730032 Jul 12, 2019 (153)
113 ILLUMINA ss3744337909 Jul 12, 2019 (153)
114 ILLUMINA ss3744603834 Jul 12, 2019 (153)
115 ILLUMINA ss3744603835 Jul 12, 2019 (153)
116 EVA ss3745741060 Jul 12, 2019 (153)
117 PAGE_CC ss3770779894 Jul 12, 2019 (153)
118 ILLUMINA ss3772105567 Jul 12, 2019 (153)
119 ILLUMINA ss3772105568 Jul 12, 2019 (153)
120 PACBIO ss3783305939 Jul 12, 2019 (153)
121 PACBIO ss3788983384 Jul 12, 2019 (153)
122 PACBIO ss3793855991 Jul 12, 2019 (153)
123 KHV_HUMAN_GENOMES ss3798763307 Jul 12, 2019 (153)
124 EVA ss3825988684 Apr 25, 2020 (154)
125 EVA ss3836381554 Apr 25, 2020 (154)
126 EVA ss3841785679 Apr 25, 2020 (154)
127 HGDP ss3847322278 Apr 25, 2020 (154)
128 SGDP_PRJ ss3848040013 Apr 25, 2020 (154)
129 KRGDB ss3892888847 Apr 25, 2020 (154)
130 EVA ss3984450960 Apr 25, 2021 (155)
131 EVA ss3984774449 Apr 25, 2021 (155)
132 VINODS ss4019473874 Apr 25, 2021 (155)
133 TOPMED ss4436977090 Apr 25, 2021 (155)
134 TOMMO_GENOMICS ss5142139960 Apr 25, 2021 (155)
135 1000Genomes NC_000001.10 - 2513216 Oct 11, 2018 (152)
136 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 2513216 Oct 11, 2018 (152)
137 Genetic variation in the Estonian population NC_000001.10 - 2513216 Oct 11, 2018 (152)
138 The Danish reference pan genome NC_000001.10 - 2513216 Apr 25, 2020 (154)
139 gnomAD - Genomes NC_000001.11 - 2581777 Apr 25, 2021 (155)
140 Genome of the Netherlands Release 5 NC_000001.10 - 2513216 Apr 25, 2020 (154)
141 HGDP-CEPH-db Supplement 1 NC_000001.9 - 2503076 Apr 25, 2020 (154)
142 HapMap NC_000001.11 - 2581777 Apr 25, 2020 (154)
143 KOREAN population from KRGDB NC_000001.10 - 2513216 Apr 25, 2020 (154)
144 Northern Sweden NC_000001.10 - 2513216 Jul 12, 2019 (153)
145 The PAGE Study NC_000001.11 - 2581777 Jul 12, 2019 (153)
146 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 2513216 Apr 25, 2021 (155)
147 CNV burdens in cranial meningiomas NC_000001.10 - 2513216 Apr 25, 2021 (155)
148 Qatari NC_000001.10 - 2513216 Apr 25, 2020 (154)
149 SGDP_PRJ NC_000001.10 - 2513216 Apr 25, 2020 (154)
150 Siberian NC_000001.10 - 2513216 Apr 25, 2020 (154)
151 8.3KJPN NC_000001.10 - 2513216 Apr 25, 2021 (155)
152 TopMed NC_000001.11 - 2581777 Apr 25, 2021 (155)
153 UK 10K study - Twins NC_000001.10 - 2513216 Oct 11, 2018 (152)
154 A Vietnamese Genetic Variation Database NC_000001.10 - 2513216 Jul 12, 2019 (153)
155 ALFA NC_000001.11 - 2581777 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)
rs60546955 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6545164470, ss3066845073 NC_000001.11:2581776:C:G NC_000001.11:2581776:C:G (self)
ss80116151, ss3638888019, ss3639756901, ss3643810829 NC_000001.8:2545377:C:T NC_000001.11:2581776:C:T (self)
170, ss87166748, ss107942598, ss109952937, ss118445573, ss162993838, ss165996065, ss197907681, ss275686873, ss283989617, ss290496377, ss481554078, ss1584144729, ss1712306158, ss2094839833, ss3642747473, ss3847322278 NC_000001.9:2503075:C:T NC_000001.11:2581776:C:T (self)
73533, 30788, 23867, 1363473, 12950, 66241, 14897, 376, 260, 20969, 56993, 11228, 109267, 30788, 6317, ss218196967, ss230400099, ss238119300, ss481583370, ss482555827, ss485572037, ss491284769, ss537467254, ss553725089, ss647528069, ss778601934, ss780686482, ss783231578, ss783360007, ss784185730, ss832491999, ss833107928, ss834059230, ss974785106, ss1067620575, ss1289406681, ss1425689470, ss1573856239, ss1599406175, ss1642400208, ss1751912616, ss1751912617, ss1793751059, ss1917721474, ss1917979039, ss1945982437, ss1958233207, ss1966669527, ss2019506045, ss2094949346, ss2147494874, ss2321642497, ss2624268922, ss2632467161, ss2697386781, ss2750838413, ss2984842112, ss2985495513, ss2986178494, ss3021046114, ss3343281584, ss3626009586, ss3626009587, ss3630506784, ss3632878291, ss3633571825, ss3634302908, ss3634302909, ss3635266015, ss3635979279, ss3637016362, ss3637733243, ss3640010273, ss3640010274, ss3640973423, ss3641267236, ss3644478289, ss3651368412, ss3651368413, ss3653615920, ss3654285619, ss3726730032, ss3744337909, ss3744603834, ss3744603835, ss3745741060, ss3772105567, ss3772105568, ss3783305939, ss3788983384, ss3793855991, ss3825988684, ss3836381554, ss3848040013, ss3892888847, ss3984450960, ss3984774449, ss5142139960 NC_000001.10:2513215:C:T NC_000001.11:2581776:C:T (self)
543390, 1361, 1363, 359760, 583425, 6545164470, ss2159487506, ss3023516968, ss3066845074, ss3686026368, ss3724989869, ss3770779894, ss3798763307, ss3841785679, ss4436977090 NC_000001.11:2581776:C:T NC_000001.11:2581776:C:T (self)
ss19118609 NT_004350.16:490877:C:T NC_000001.11:2581776:C:T (self)
ss81267, ss44027848, ss65719795, ss67572475, ss67953266, ss68276392, ss70924835, ss71525595, ss75761573, ss83540267, ss105113754, ss120244560, ss137759305, ss154421813, ss154544683, ss159596913, ss160875595, ss174353089, ss244255176 NT_004350.19:1991847:C:T NC_000001.11:2581776:C:T (self)
ss4019473874 NT_187515.1:132966:C:T NC_000001.11:2581776:C:T
Help

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

4 citations for rs734999
PMID Title Author Year Journal
21297633 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Anderson CA et al. 2011 Nature genetics
24727690 Single nucleotide polymorphism (SNP)-strings: an alternative method for assessing genetic associations. Goodin DS et al. 2014 PloS one
27336838 Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci. Di Narzo AF et al. 2016 Clinical and translational gastroenterology
27506385 Predicting gene targets from integrative analyses of summary data from GWAS and eQTL studies for 28 human complex traits. Pavlides JM et al. 2016 Genome medicine
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