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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.

rs5753037

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr22:30185733 (GRCh38.p12) 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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.314905 (39542/125568, TOPMED)
T=0.367691 (44776/121776, ALFA Project)
T=0.27597 (21717/78694, PAGE_STUDY) (+ 16 more)
T=0.29453 (9221/31308, GnomAD)
T=0.2788 (1396/5008, 1000G)
T=0.2703 (1211/4480, Estonian)
T=0.3993 (1539/3854, ALSPAC)
T=0.3851 (1428/3708, TWINSUK)
C=0.3727 (1092/2930, KOREAN)
T=0.2810 (585/2082, HGDP_Stanford)
T=0.3209 (602/1876, HapMap)
C=0.3614 (662/1832, Korea1K)
T=0.407 (406/998, GoNL)
T=0.343 (206/600, NorthernSweden)
C=0.383 (102/266, SGDP_PRJ)
T=0.204 (44/216, Qatari)
C=0.458 (98/214, Vietnamese)
T=0.38 (15/40, GENOME_DK)
C=0.31 (8/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HORMAD2 : Intron Variant
LOC105372988 : Intron Variant
Publications
8 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.p12 chr 22 NC_000022.11:g.30185733C>A
GRCh38.p12 chr 22 NC_000022.11:g.30185733C>G
GRCh38.p12 chr 22 NC_000022.11:g.30185733C>T
GRCh37.p13 chr 22 NC_000022.10:g.30581722C>A
GRCh37.p13 chr 22 NC_000022.10:g.30581722C>G
GRCh37.p13 chr 22 NC_000022.10:g.30581722C>T
Gene: HORMAD2, HORMA domain containing 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HORMAD2 transcript variant 1 NM_001329457.2:c. N/A Genic Downstream Transcript Variant
HORMAD2 transcript variant 3 NM_001329458.2:c. N/A Genic Downstream Transcript Variant
HORMAD2 transcript variant 2 NM_152510.4:c. N/A Genic Downstream Transcript Variant
HORMAD2 transcript variant X1 XM_011529914.2:c.820-2125…

XM_011529914.2:c.820-21252C>A

N/A Intron Variant
HORMAD2 transcript variant X2 XM_017028621.1:c.820-2125…

XM_017028621.1:c.820-21252C>A

N/A Intron Variant
HORMAD2 transcript variant X3 XM_017028622.1:c.820-2125…

XM_017028622.1:c.820-21252C>A

N/A Intron Variant
HORMAD2 transcript variant X6 XM_017028624.1:c.556-2125…

XM_017028624.1:c.556-21252C>A

N/A Intron Variant
HORMAD2 transcript variant X7 XM_017028625.1:c.508-2125…

XM_017028625.1:c.508-21252C>A

N/A Intron Variant
HORMAD2 transcript variant X8 XM_017028626.1:c.418-2125…

XM_017028626.1:c.418-21252C>A

N/A Intron Variant
HORMAD2 transcript variant X4 XM_011529917.3:c. N/A Genic Downstream Transcript Variant
HORMAD2 transcript variant X5 XM_011529918.1:c. N/A Genic Downstream Transcript Variant
Gene: LOC105372988, uncharacterized LOC105372988 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105372988 transcript XR_938153.3: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

ALFA Allele Frequency (New)
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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 121776 C=0.632309 T=0.367691
European Sub 108732 C=0.619551 T=0.380449
African Sub 1664 C=0.8419 T=0.1581
African Others Sub 44 C=0.91 T=0.09
African American Sub 1620 C=0.8401 T=0.1599
Asian Sub 180 C=0.356 T=0.644
East Asian Sub 142 C=0.345 T=0.655
Other Asian Sub 38 C=0.39 T=0.61
Latin American 1 Sub 24 C=0.67 T=0.33
Latin American 2 Sub 92 C=0.76 T=0.24
South Asian Sub 4848 C=0.8614 T=0.1386
Other Sub 6236 C=0.6267 T=0.3733


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 125568 C=0.685095 T=0.314905
ALFA Total Global 121776 C=0.632309 T=0.367691
ALFA European Sub 108732 C=0.619551 T=0.380449
ALFA Other Sub 6236 C=0.6267 T=0.3733
ALFA South Asian Sub 4848 C=0.8614 T=0.1386
ALFA African Sub 1664 C=0.8419 T=0.1581
ALFA Asian Sub 180 C=0.356 T=0.644
ALFA Latin American 2 Sub 92 C=0.76 T=0.24
ALFA Latin American 1 Sub 24 C=0.67 T=0.33
The PAGE Study Global Study-wide 78694 C=0.72403 T=0.27597
The PAGE Study AfricanAmerican Sub 32514 C=0.84247 T=0.15753
The PAGE Study Mexican Sub 10810 C=0.73987 T=0.26013
The PAGE Study Asian Sub 8314 C=0.3370 T=0.6630
The PAGE Study PuertoRican Sub 7916 C=0.6949 T=0.3051
The PAGE Study NativeHawaiian Sub 4534 C=0.6081 T=0.3919
The PAGE Study Cuban Sub 4230 C=0.6544 T=0.3456
The PAGE Study Dominican Sub 3828 C=0.7137 T=0.2863
The PAGE Study CentralAmerican Sub 2450 C=0.7878 T=0.2122
The PAGE Study SouthAmerican Sub 1982 C=0.7492 T=0.2508
The PAGE Study NativeAmerican Sub 1260 C=0.6857 T=0.3143
The PAGE Study SouthAsian Sub 856 C=0.874 T=0.126
gnomAD - Genomes Global Study-wide 31308 C=0.70547 T=0.29453
gnomAD - Genomes European Sub 18836 C=0.65773 T=0.34227
gnomAD - Genomes African Sub 8700 C=0.8577 T=0.1423
gnomAD - Genomes East Asian Sub 1548 C=0.4412 T=0.5588
gnomAD - Genomes Other Sub 1086 C=0.6851 T=0.3149
gnomAD - Genomes American Sub 848 C=0.742 T=0.258
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.621 T=0.379
1000Genomes Global Study-wide 5008 C=0.7212 T=0.2788
1000Genomes African Sub 1322 C=0.8896 T=0.1104
1000Genomes East Asian Sub 1008 C=0.4454 T=0.5546
1000Genomes Europe Sub 1006 C=0.5944 T=0.4056
1000Genomes South Asian Sub 978 C=0.887 T=0.113
1000Genomes American Sub 694 C=0.752 T=0.248
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7297 T=0.2703
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6007 T=0.3993
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6149 T=0.3851
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.3727 G=0.0000, T=0.6273
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 C=0.7190 T=0.2810
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 C=0.455 T=0.545
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.814 T=0.186
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.746 T=0.254
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.591 T=0.409
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.959 T=0.041
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.894 T=0.106
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=1.00 T=0.00
HapMap Global Study-wide 1876 C=0.6791 T=0.3209
HapMap American Sub 766 C=0.648 T=0.352
HapMap African Sub 686 C=0.841 T=0.159
HapMap Asian Sub 250 C=0.388 T=0.612
HapMap Europe Sub 174 C=0.598 T=0.402
Korean Genome Project KOREAN Study-wide 1832 C=0.3614 T=0.6386
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.593 T=0.407
Northern Sweden ACPOP Study-wide 600 C=0.657 T=0.343
SGDP_PRJ Global Study-wide 266 C=0.383 T=0.617
Qatari Global Study-wide 216 C=0.796 T=0.204
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.458 T=0.542
The Danish reference pan genome Danish Study-wide 40 C=0.62 T=0.38
Siberian Global Study-wide 26 C=0.31 T=0.69
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 G T
GRCh38.p12 chr 22 NC_000022.11:g.30185733= NC_000022.11:g.30185733C>A NC_000022.11:g.30185733C>G NC_000022.11:g.30185733C>T
GRCh37.p13 chr 22 NC_000022.10:g.30581722= NC_000022.10:g.30581722C>A NC_000022.10:g.30581722C>G NC_000022.10:g.30581722C>T
HORMAD2 transcript variant X1 XM_011529914.2:c.820-21252= XM_011529914.2:c.820-21252C>A XM_011529914.2:c.820-21252C>G XM_011529914.2:c.820-21252C>T
HORMAD2 transcript variant X2 XM_017028621.1:c.820-21252= XM_017028621.1:c.820-21252C>A XM_017028621.1:c.820-21252C>G XM_017028621.1:c.820-21252C>T
HORMAD2 transcript variant X3 XM_017028622.1:c.820-21252= XM_017028622.1:c.820-21252C>A XM_017028622.1:c.820-21252C>G XM_017028622.1:c.820-21252C>T
HORMAD2 transcript variant X6 XM_017028624.1:c.556-21252= XM_017028624.1:c.556-21252C>A XM_017028624.1:c.556-21252C>G XM_017028624.1:c.556-21252C>T
HORMAD2 transcript variant X7 XM_017028625.1:c.508-21252= XM_017028625.1:c.508-21252C>A XM_017028625.1:c.508-21252C>G XM_017028625.1:c.508-21252C>T
HORMAD2 transcript variant X8 XM_017028626.1:c.418-21252= XM_017028626.1:c.418-21252C>A XM_017028626.1:c.418-21252C>G XM_017028626.1:c.418-21252C>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, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8001965 Apr 21, 2003 (114)
2 SC_SNP ss13369291 Dec 05, 2003 (119)
3 PERLEGEN ss14867218 Dec 05, 2003 (119)
4 PERLEGEN ss24117454 Sep 20, 2004 (123)
5 AFFY ss65951396 Nov 30, 2006 (127)
6 ILLUMINA ss66621283 Nov 30, 2006 (127)
7 ILLUMINA ss67420296 Nov 30, 2006 (127)
8 ILLUMINA ss67781344 Nov 30, 2006 (127)
9 ILLUMINA ss70846993 May 23, 2008 (130)
10 ILLUMINA ss71431756 May 17, 2007 (127)
11 ILLUMINA ss75438246 Dec 06, 2007 (129)
12 HGSV ss78288729 Dec 06, 2007 (129)
13 ILLUMINA ss79209602 Dec 14, 2007 (130)
14 HGSV ss82640424 Dec 14, 2007 (130)
15 KRIBB_YJKIM ss84423092 Dec 14, 2007 (130)
16 BGI ss103853824 Dec 01, 2009 (131)
17 1000GENOMES ss112605894 Jan 25, 2009 (130)
18 ILLUMINA ss122473353 Dec 01, 2009 (131)
19 ILLUMINA ss154340853 Dec 01, 2009 (131)
20 GMI ss157121715 Dec 01, 2009 (131)
21 ILLUMINA ss159517438 Dec 01, 2009 (131)
22 ILLUMINA ss172040169 Jul 04, 2010 (132)
23 ILLUMINA ss173928085 Jul 04, 2010 (132)
24 1000GENOMES ss228656409 Jul 14, 2010 (132)
25 1000GENOMES ss238050898 Jul 15, 2010 (132)
26 1000GENOMES ss244174392 Jul 15, 2010 (132)
27 GMI ss283618869 May 04, 2012 (137)
28 GMI ss287561589 Apr 25, 2013 (138)
29 PJP ss292751503 May 09, 2011 (134)
30 EXOME_CHIP ss491570146 May 04, 2012 (137)
31 ILLUMINA ss537314302 Sep 08, 2015 (146)
32 TISHKOFF ss566608422 Apr 25, 2013 (138)
33 SSMP ss662539870 Apr 25, 2013 (138)
34 ILLUMINA ss780685646 Sep 08, 2015 (146)
35 ILLUMINA ss783359142 Sep 08, 2015 (146)
36 ILLUMINA ss825540120 Apr 01, 2015 (144)
37 ILLUMINA ss833028728 Jul 13, 2019 (153)
38 EVA-GONL ss995302753 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1082624243 Aug 21, 2014 (142)
40 1000GENOMES ss1366987046 Aug 21, 2014 (142)
41 DDI ss1429243169 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1579733606 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1639898599 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1682892632 Apr 01, 2015 (144)
45 EVA_DECODE ss1699371967 Apr 01, 2015 (144)
46 EVA_SVP ss1713737412 Apr 01, 2015 (144)
47 ILLUMINA ss1752418096 Sep 08, 2015 (146)
48 ILLUMINA ss1917954721 Feb 12, 2016 (147)
49 WEILL_CORNELL_DGM ss1938869197 Feb 12, 2016 (147)
50 ILLUMINA ss1946585381 Feb 12, 2016 (147)
51 ILLUMINA ss1959974391 Feb 12, 2016 (147)
52 GENOMED ss1969263018 Jul 19, 2016 (147)
53 JJLAB ss2030206136 Sep 14, 2016 (149)
54 ILLUMINA ss2094923291 Dec 20, 2016 (150)
55 ILLUMINA ss2095122548 Dec 20, 2016 (150)
56 ILLUMINA ss2095122549 Dec 20, 2016 (150)
57 USC_VALOUEV ss2158822397 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2246968473 Dec 20, 2016 (150)
59 TOPMED ss2413911138 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2629601754 Nov 08, 2017 (151)
61 ILLUMINA ss2633871997 Nov 08, 2017 (151)
62 ILLUMINA ss2633871998 Nov 08, 2017 (151)
63 GRF ss2704573554 Nov 08, 2017 (151)
64 ILLUMINA ss2710956133 Nov 08, 2017 (151)
65 GNOMAD ss2973881181 Nov 08, 2017 (151)
66 AFFY ss2985853210 Nov 08, 2017 (151)
67 SWEGEN ss3019228537 Nov 08, 2017 (151)
68 ILLUMINA ss3022180947 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3028940673 Nov 08, 2017 (151)
70 CSHL ss3352815603 Nov 08, 2017 (151)
71 TOPMED ss3376025687 Nov 08, 2017 (151)
72 TOPMED ss3376025688 Nov 08, 2017 (151)
73 ILLUMINA ss3628522940 Oct 12, 2018 (152)
74 ILLUMINA ss3628522941 Oct 12, 2018 (152)
75 ILLUMINA ss3634865119 Oct 12, 2018 (152)
76 ILLUMINA ss3638379673 Oct 12, 2018 (152)
77 ILLUMINA ss3639193547 Oct 12, 2018 (152)
78 ILLUMINA ss3639613225 Oct 12, 2018 (152)
79 ILLUMINA ss3640572423 Oct 12, 2018 (152)
80 ILLUMINA ss3643339662 Oct 12, 2018 (152)
81 ILLUMINA ss3644798750 Oct 12, 2018 (152)
82 ILLUMINA ss3652643941 Oct 12, 2018 (152)
83 ILLUMINA ss3652643942 Oct 12, 2018 (152)
84 ILLUMINA ss3652643943 Oct 12, 2018 (152)
85 EGCUT_WGS ss3685725294 Jul 13, 2019 (153)
86 EVA_DECODE ss3708107505 Jul 13, 2019 (153)
87 ILLUMINA ss3725964101 Jul 13, 2019 (153)
88 ACPOP ss3743892248 Jul 13, 2019 (153)
89 ILLUMINA ss3744501830 Jul 13, 2019 (153)
90 ILLUMINA ss3745164976 Jul 13, 2019 (153)
91 EVA ss3759325941 Jul 13, 2019 (153)
92 PAGE_CC ss3772087726 Jul 13, 2019 (153)
93 ILLUMINA ss3772660907 Jul 13, 2019 (153)
94 PACBIO ss3788815968 Jul 13, 2019 (153)
95 PACBIO ss3793683739 Jul 13, 2019 (153)
96 PACBIO ss3798570191 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3822490868 Jul 13, 2019 (153)
98 EVA ss3835967157 Apr 27, 2020 (154)
99 EVA ss3841611849 Apr 27, 2020 (154)
100 EVA ss3847126680 Apr 27, 2020 (154)
101 HGDP ss3847687510 Apr 27, 2020 (154)
102 SGDP_PRJ ss3890449900 Apr 27, 2020 (154)
103 KRGDB ss3940833575 Apr 27, 2020 (154)
104 KOGIC ss3983549241 Apr 27, 2020 (154)
105 1000Genomes NC_000022.10 - 30581722 Oct 12, 2018 (152)
106 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 30581722 Oct 12, 2018 (152)
107 Genetic variation in the Estonian population NC_000022.10 - 30581722 Oct 12, 2018 (152)
108 The Danish reference pan genome NC_000022.10 - 30581722 Apr 27, 2020 (154)
109 gnomAD - Genomes NC_000022.10 - 30581722 Jul 13, 2019 (153)
110 Genome of the Netherlands Release 5 NC_000022.10 - 30581722 Apr 27, 2020 (154)
111 HGDP-CEPH-db Supplement 1 NC_000022.9 - 28911722 Apr 27, 2020 (154)
112 HapMap NC_000022.11 - 30185733 Apr 27, 2020 (154)
113 KOREAN population from KRGDB NC_000022.10 - 30581722 Apr 27, 2020 (154)
114 Korean Genome Project NC_000022.11 - 30185733 Apr 27, 2020 (154)
115 Northern Sweden NC_000022.10 - 30581722 Jul 13, 2019 (153)
116 The PAGE Study NC_000022.11 - 30185733 Jul 13, 2019 (153)
117 Qatari NC_000022.10 - 30581722 Apr 27, 2020 (154)
118 SGDP_PRJ NC_000022.10 - 30581722 Apr 27, 2020 (154)
119 Siberian NC_000022.10 - 30581722 Apr 27, 2020 (154)
120 TopMed NC_000022.11 - 30185733 Oct 12, 2018 (152)
121 UK 10K study - Twins NC_000022.10 - 30581722 Oct 12, 2018 (152)
122 A Vietnamese Genetic Variation Database NC_000022.10 - 30581722 Jul 13, 2019 (153)
123 dbGaP Population Frequency Project NC_000022.11 - 30185733 Apr 27, 2020 (154)
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)
rs57043769 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3376025687 NC_000022.11:30185732:C:A NC_000022.11:30185732:C:A (self)
48010969, ss3940833575 NC_000022.10:30581721:C:G NC_000022.11:30185732:C:G
ss78288729, ss82640424, ss3639193547, ss3639613225 NC_000022.8:28906275:C:T NC_000022.11:30185732:C:T (self)
365402, ss112605894, ss283618869, ss287561589, ss292751503, ss825540120, ss1699371967, ss1713737412, ss2094923291, ss3643339662, ss3847687510 NC_000022.9:28911721:C:T NC_000022.11:30185732:C:T (self)
80532463, 44542801, 31463542, 5898545, 219665778, 19849073, 48010969, 17177113, 20911119, 42466880, 11338751, 44542801, 9828257, ss228656409, ss238050898, ss244174392, ss491570146, ss537314302, ss566608422, ss662539870, ss780685646, ss783359142, ss833028728, ss995302753, ss1082624243, ss1366987046, ss1429243169, ss1579733606, ss1639898599, ss1682892632, ss1752418096, ss1917954721, ss1938869197, ss1946585381, ss1959974391, ss1969263018, ss2030206136, ss2095122548, ss2095122549, ss2158822397, ss2413911138, ss2629601754, ss2633871997, ss2633871998, ss2704573554, ss2710956133, ss2973881181, ss2985853210, ss3019228537, ss3022180947, ss3352815603, ss3628522940, ss3628522941, ss3634865119, ss3638379673, ss3640572423, ss3644798750, ss3652643941, ss3652643942, ss3652643943, ss3685725294, ss3743892248, ss3744501830, ss3745164976, ss3759325941, ss3772660907, ss3788815968, ss3793683739, ss3798570191, ss3835967157, ss3841611849, ss3890449900, ss3940833575 NC_000022.10:30581721:C:T NC_000022.11:30185732:C:T (self)
2244196, 39927242, 1309195, 239074566, 253982338, ss2246968473, ss3028940673, ss3376025688, ss3708107505, ss3725964101, ss3772087726, ss3822490868, ss3847126680, ss3983549241 NC_000022.11:30185732:C:T NC_000022.11:30185732:C:T (self)
ss13369291 NT_011520.9:9972290:C:T NC_000022.11:30185732:C:T (self)
ss8001965, ss14867218, ss24117454, ss65951396, ss66621283, ss67420296, ss67781344, ss70846993, ss71431756, ss75438246, ss79209602, ss84423092, ss103853824, ss122473353, ss154340853, ss157121715, ss159517438, ss172040169, ss173928085 NT_011520.12:9972290:C:T NC_000022.11:30185732: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.

8 citations for rs5753037
PMID Title Author Year Journal
19430480 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Barrett JC et al. 2009 Nature genetics
20176734 Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Wang K et al. 2010 Human molecular genetics
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20885991 Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies. Carey C et al. 2010 Expert opinion on medical diagnostics
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22278338 Confirmation of novel type 1 diabetes risk loci in families. Cooper JD et al. 2012 Diabetologia
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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.post536+f5d31d6