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.

rs1990760

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr2:162267541 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.498404 (125197/251196, GnomAD_exome)
C=0.426316 (79785/187150, ALFA Project)
T=0.427282 (53653/125568, TOPMED) (+ 22 more)
C=0.495294 (60100/121342, ExAC)
T=0.30487 (23993/78698, PAGE_STUDY)
T=0.46176 (14468/31332, GnomAD)
T=0.46140 (6001/13006, GO-ESP)
T=0.3566 (1786/5008, 1000G)
C=0.3538 (1585/4480, Estonian)
C=0.3954 (1524/3854, ALSPAC)
C=0.4021 (1491/3708, TWINSUK)
T=0.1754 (514/2930, KOREAN)
T=0.3584 (747/2084, HGDP_Stanford)
T=0.3309 (624/1886, HapMap)
T=0.1818 (333/1832, Korea1K)
C=0.4991 (561/1124, Daghestan)
C=0.370 (369/998, GoNL)
T=0.188 (115/612, Vietnamese)
C=0.418 (251/600, NorthernSweden)
C=0.438 (234/534, MGP)
C=0.368 (112/304, FINRISK)
C=0.319 (97/304, SGDP_PRJ)
T=0.449 (97/216, Qatari)
C=0.40 (16/40, GENOME_DK)
C=0.42 (17/40, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
IFIH1 : Missense Variant
Publications
103 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 2 NC_000002.12:g.162267541C>T
GRCh37.p13 chr 2 NC_000002.11:g.163124051C>T
IFIH1 RefSeqGene (LRG_1235) NG_011495.1:g.55989G>A
Gene: IFIH1, interferon induced with helicase C domain 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
IFIH1 transcript NM_022168.4:c.2836G>A A [GCA] > T [ACA] Coding Sequence Variant
interferon-induced helicase C domain-containing protein 1 NP_071451.2:p.Ala946Thr A (Ala) > T (Thr) Missense 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.

Allele: T (allele ID: 250306 )
ClinVar Accession Disease Names Clinical Significance
RCV000245445.1 not specified Benign

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 187150 C=0.426316 T=0.573684
European Sub 158910 C=0.399786 T=0.600214
African Sub 6656 C=0.8095 T=0.1905
African Others Sub 216 C=0.912 T=0.088
African American Sub 6440 C=0.8061 T=0.1939
Asian Sub 424 C=0.814 T=0.186
East Asian Sub 288 C=0.833 T=0.167
Other Asian Sub 136 C=0.772 T=0.228
Latin American 1 Sub 562 C=0.537 T=0.463
Latin American 2 Sub 5426 C=0.5604 T=0.4396
South Asian Sub 4902 C=0.4631 T=0.5369
Other Sub 10270 C=0.47799 T=0.52201


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
gnomAD - Exomes Global Study-wide 251196 C=0.498404 T=0.501596
gnomAD - Exomes European Sub 135232 C=0.399358 T=0.600642
gnomAD - Exomes Asian Sub 48974 C=0.60222 T=0.39778
gnomAD - Exomes American Sub 34536 C=0.57615 T=0.42385
gnomAD - Exomes African Sub 16246 C=0.82519 T=0.17481
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=0.54637 T=0.45363
gnomAD - Exomes Other Sub 6136 C=0.4712 T=0.5288
ALFA Total Global 187150 C=0.426316 T=0.573684
ALFA European Sub 158910 C=0.399786 T=0.600214
ALFA Other Sub 10270 C=0.47799 T=0.52201
ALFA African Sub 6656 C=0.8095 T=0.1905
ALFA Latin American 2 Sub 5426 C=0.5604 T=0.4396
ALFA South Asian Sub 4902 C=0.4631 T=0.5369
ALFA Latin American 1 Sub 562 C=0.537 T=0.463
ALFA Asian Sub 424 C=0.814 T=0.186
TopMed Global Study-wide 125568 C=0.572718 T=0.427282
ExAC Global Study-wide 121342 C=0.495294 T=0.504706
ExAC Europe Sub 73326 C=0.40359 T=0.59641
ExAC Asian Sub 25158 C=0.58967 T=0.41033
ExAC American Sub 11552 C=0.57765 T=0.42235
ExAC African Sub 10398 C=0.82420 T=0.17580
ExAC Other Sub 908 C=0.471 T=0.529
The PAGE Study Global Study-wide 78698 C=0.69513 T=0.30487
The PAGE Study AfricanAmerican Sub 32516 C=0.79570 T=0.20430
The PAGE Study Mexican Sub 10808 C=0.57245 T=0.42755
The PAGE Study Asian Sub 8318 C=0.7743 T=0.2257
The PAGE Study PuertoRican Sub 7918 C=0.6041 T=0.3959
The PAGE Study NativeHawaiian Sub 4534 C=0.7016 T=0.2984
The PAGE Study Cuban Sub 4228 C=0.4723 T=0.5277
The PAGE Study Dominican Sub 3828 C=0.6460 T=0.3540
The PAGE Study CentralAmerican Sub 2450 C=0.6073 T=0.3927
The PAGE Study SouthAmerican Sub 1982 C=0.6176 T=0.3824
The PAGE Study NativeAmerican Sub 1260 C=0.5135 T=0.4865
The PAGE Study SouthAsian Sub 856 C=0.480 T=0.520
gnomAD - Genomes Global Study-wide 31332 C=0.53824 T=0.46176
gnomAD - Genomes European Sub 18868 C=0.39056 T=0.60944
gnomAD - Genomes African Sub 8686 C=0.8222 T=0.1778
gnomAD - Genomes East Asian Sub 1558 C=0.8126 T=0.1874
gnomAD - Genomes Other Sub 1084 C=0.4363 T=0.5637
gnomAD - Genomes American Sub 846 C=0.546 T=0.454
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.524 T=0.476
GO Exome Sequencing Project Global Study-wide 13006 C=0.53860 T=0.46140
GO Exome Sequencing Project European American Sub 8600 C=0.3971 T=0.6029
GO Exome Sequencing Project African American Sub 4406 C=0.8148 T=0.1852
1000Genomes Global Study-wide 5008 C=0.6434 T=0.3566
1000Genomes African Sub 1322 C=0.8744 T=0.1256
1000Genomes East Asian Sub 1008 C=0.8135 T=0.1865
1000Genomes Europe Sub 1006 C=0.3946 T=0.6054
1000Genomes South Asian Sub 978 C=0.436 T=0.564
1000Genomes American Sub 694 C=0.610 T=0.390
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3538 T=0.6462
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3954 T=0.6046
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4021 T=0.5979
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8246 T=0.1754
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.6416 T=0.3584
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.766 T=0.234
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.512 T=0.488
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.511 T=0.489
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.431 T=0.569
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.893 T=0.107
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.843 T=0.157
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.69 T=0.31
HapMap Global Study-wide 1886 C=0.6691 T=0.3309
HapMap American Sub 768 C=0.539 T=0.461
HapMap African Sub 690 C=0.838 T=0.162
HapMap Asian Sub 252 C=0.786 T=0.214
HapMap Europe Sub 176 C=0.409 T=0.591
Korean Genome Project KOREAN Study-wide 1832 C=0.8182 T=0.1818
Genome-wide autozygosity in Daghestan Global Study-wide 1124 C=0.4991 T=0.5009
Genome-wide autozygosity in Daghestan Daghestan Sub 616 C=0.481 T=0.519
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.472 T=0.528
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.574 T=0.426
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.454 T=0.546
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.60 T=0.40
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.53 T=0.47
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.370 T=0.630
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.812 T=0.188
Northern Sweden ACPOP Study-wide 600 C=0.418 T=0.582
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.438 T=0.562
FINRISK Finnish from FINRISK project Study-wide 304 C=0.368 T=0.632
SGDP_PRJ Global Study-wide 304 C=0.319 T=0.681
Qatari Global Study-wide 216 C=0.551 T=0.449
The Danish reference pan genome Danish Study-wide 40 C=0.40 T=0.60
Siberian Global Study-wide 40 C=0.42 T=0.57
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.p12 chr 2 NC_000002.12:g.162267541= NC_000002.12:g.162267541C>T
GRCh37.p13 chr 2 NC_000002.11:g.163124051= NC_000002.11:g.163124051C>T
IFIH1 RefSeqGene (LRG_1235) NG_011495.1:g.55989= NG_011495.1:g.55989G>A
IFIH1 transcript NM_022168.4:c.2836= NM_022168.4:c.2836G>A
IFIH1 transcript NM_022168.3:c.2836= NM_022168.3:c.2836G>A
interferon-induced helicase C domain-containing protein 1 NP_071451.2:p.Ala946= NP_071451.2:p.Ala946Thr
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#.

155 SubSNP, 25 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2902594 Jan 12, 2001 (92)
2 YUSUKE ss4947688 Aug 28, 2002 (108)
3 SSAHASNP ss21701302 Apr 05, 2004 (121)
4 ABI ss44168494 Mar 13, 2006 (126)
5 APPLERA_GI ss48403747 Mar 13, 2006 (126)
6 JDRF_WT_DIL ss50392596 Mar 14, 2006 (126)
7 ILLUMINA ss65717384 Oct 15, 2006 (127)
8 ILLUMINA ss66610267 Nov 30, 2006 (127)
9 ILLUMINA ss67213014 Nov 30, 2006 (127)
10 ILLUMINA ss67606389 Nov 30, 2006 (127)
11 PERLEGEN ss68833480 May 17, 2007 (127)
12 ILLUMINA ss70691270 May 24, 2008 (130)
13 ILLUMINA ss71256257 May 17, 2007 (127)
14 AFFY ss74811031 Aug 16, 2007 (128)
15 ILLUMINA ss75453486 Dec 07, 2007 (129)
16 SI_EXO ss76887512 Dec 07, 2007 (129)
17 ILLUMINA ss79105725 Dec 14, 2007 (130)
18 KRIBB_YJKIM ss83937488 Dec 14, 2007 (130)
19 HUMANGENOME_JCVI ss96443444 Feb 04, 2009 (130)
20 1000GENOMES ss110173120 Jan 24, 2009 (130)
21 1000GENOMES ss111186549 Jan 25, 2009 (130)
22 ILLUMINA ss120037439 Dec 01, 2009 (131)
23 ILLUMINA ss120245492 Dec 01, 2009 (131)
24 ILLUMINA ss121875364 Dec 01, 2009 (131)
25 ENSEMBL ss136083658 Dec 01, 2009 (131)
26 ILLUMINA ss153805576 Dec 01, 2009 (131)
27 GMI ss157919140 Dec 01, 2009 (131)
28 ILLUMINA ss159346541 Dec 01, 2009 (131)
29 SEATTLESEQ ss159702960 Dec 01, 2009 (131)
30 ILLUMINA ss160485113 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss164689278 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss167369313 Jul 04, 2010 (132)
33 ILLUMINA ss170928015 Jul 04, 2010 (132)
34 ILLUMINA ss173028520 Jul 04, 2010 (132)
35 BCM-HGSC-SUB ss205583881 Jul 04, 2010 (132)
36 1000GENOMES ss219620460 Jul 14, 2010 (132)
37 1000GENOMES ss231444986 Jul 14, 2010 (132)
38 1000GENOMES ss238936601 Jul 15, 2010 (132)
39 ILLUMINA ss244255977 Jul 04, 2010 (132)
40 ILLUMINA ss244286024 Jul 04, 2010 (132)
41 BL ss253635481 May 09, 2011 (134)
42 GMI ss276761773 May 04, 2012 (137)
43 GMI ss284474978 Apr 25, 2013 (138)
44 PJP ss292413884 May 09, 2011 (134)
45 NHLBI-ESP ss342083519 May 09, 2011 (134)
46 ILLUMINA ss480370549 May 04, 2012 (137)
47 ILLUMINA ss480382819 May 04, 2012 (137)
48 ILLUMINA ss481155884 Sep 08, 2015 (146)
49 ILLUMINA ss484982863 May 04, 2012 (137)
50 1000GENOMES ss489837654 May 04, 2012 (137)
51 EXOME_CHIP ss491326093 May 04, 2012 (137)
52 CLINSEQ_SNP ss491793461 May 04, 2012 (137)
53 ILLUMINA ss537018907 Sep 08, 2015 (146)
54 TISHKOFF ss555998633 Apr 25, 2013 (138)
55 SSMP ss649645197 Apr 25, 2013 (138)
56 ILLUMINA ss778475404 Sep 08, 2015 (146)
57 ILLUMINA ss780806016 Sep 08, 2015 (146)
58 ILLUMINA ss782937735 Sep 08, 2015 (146)
59 ILLUMINA ss783487675 Sep 08, 2015 (146)
60 ILLUMINA ss783900409 Sep 08, 2015 (146)
61 ILLUMINA ss825436243 Jul 19, 2016 (147)
62 ILLUMINA ss832193285 Sep 08, 2015 (146)
63 ILLUMINA ss832858490 Jul 13, 2019 (153)
64 ILLUMINA ss833931220 Sep 08, 2015 (146)
65 JMKIDD_LAB ss974444205 Aug 21, 2014 (142)
66 EVA-GONL ss977578101 Aug 21, 2014 (142)
67 JMKIDD_LAB ss1067441883 Aug 21, 2014 (142)
68 JMKIDD_LAB ss1069656565 Aug 21, 2014 (142)
69 1000GENOMES ss1300177483 Aug 21, 2014 (142)
70 HAMMER_LAB ss1397310233 Sep 08, 2015 (146)
71 DDI ss1428802156 Apr 01, 2015 (144)
72 EVA_GENOME_DK ss1579173163 Apr 01, 2015 (144)
73 EVA_FINRISK ss1584021587 Apr 01, 2015 (144)
74 EVA_DECODE ss1587013704 Apr 01, 2015 (144)
75 EVA_UK10K_ALSPAC ss1605014370 Apr 01, 2015 (144)
76 EVA_UK10K_TWINSUK ss1648008403 Apr 01, 2015 (144)
77 EVA_EXAC ss1686566673 Apr 01, 2015 (144)
78 EVA_MGP ss1710985124 Apr 01, 2015 (144)
79 EVA_SVP ss1712504942 Apr 01, 2015 (144)
80 ILLUMINA ss1752320237 Sep 08, 2015 (146)
81 ILLUMINA ss1752320238 Sep 08, 2015 (146)
82 ILLUMINA ss1917755185 Feb 12, 2016 (147)
83 WEILL_CORNELL_DGM ss1920830422 Feb 12, 2016 (147)
84 ILLUMINA ss1946056451 Feb 12, 2016 (147)
85 ILLUMINA ss1958473396 Feb 12, 2016 (147)
86 GENOMED ss1968938230 Jul 19, 2016 (147)
87 JJLAB ss2020947164 Sep 14, 2016 (149)
88 ILLUMINA ss2094909916 Dec 20, 2016 (150)
89 ILLUMINA ss2095102333 Dec 20, 2016 (150)
90 ILLUMINA ss2095102334 Dec 20, 2016 (150)
91 USC_VALOUEV ss2149012368 Dec 20, 2016 (150)
92 HUMAN_LONGEVITY ss2236052484 Dec 20, 2016 (150)
93 TOPMED ss2402458300 Dec 20, 2016 (150)
94 SYSTEMSBIOZJU ss2624977810 Nov 08, 2017 (151)
95 ILLUMINA ss2633697099 Nov 08, 2017 (151)
96 ILLUMINA ss2633697100 Nov 08, 2017 (151)
97 ILLUMINA ss2633697101 Nov 08, 2017 (151)
98 GRF ss2703646513 Nov 08, 2017 (151)
99 GNOMAD ss2733067584 Nov 08, 2017 (151)
100 GNOMAD ss2746803168 Nov 08, 2017 (151)
101 GNOMAD ss2782101378 Nov 08, 2017 (151)
102 AFFY ss2985189316 Nov 08, 2017 (151)
103 AFFY ss2985810503 Nov 08, 2017 (151)
104 SWEGEN ss2990765256 Nov 08, 2017 (151)
105 ILLUMINA ss3022034204 Nov 08, 2017 (151)
106 EVA_SAMSUNG_MC ss3023058688 Nov 08, 2017 (151)
107 BIOINF_KMB_FNS_UNIBA ss3024235388 Nov 08, 2017 (151)
108 TOPMED ss3328619102 Nov 08, 2017 (151)
109 CSHL ss3344577122 Nov 08, 2017 (151)
110 ILLUMINA ss3628208121 Oct 11, 2018 (152)
111 ILLUMINA ss3628208122 Oct 11, 2018 (152)
112 ILLUMINA ss3631659251 Oct 11, 2018 (152)
113 ILLUMINA ss3633222851 Oct 11, 2018 (152)
114 ILLUMINA ss3633935580 Oct 11, 2018 (152)
115 ILLUMINA ss3634795668 Oct 11, 2018 (152)
116 ILLUMINA ss3634795669 Oct 11, 2018 (152)
117 ILLUMINA ss3635621275 Oct 11, 2018 (152)
118 ILLUMINA ss3636484987 Oct 11, 2018 (152)
119 ILLUMINA ss3637373260 Oct 11, 2018 (152)
120 ILLUMINA ss3638298593 Oct 11, 2018 (152)
121 ILLUMINA ss3639153272 Oct 11, 2018 (152)
122 ILLUMINA ss3639589522 Oct 11, 2018 (152)
123 ILLUMINA ss3640502967 Oct 11, 2018 (152)
124 ILLUMINA ss3640502968 Oct 11, 2018 (152)
125 ILLUMINA ss3643264760 Oct 11, 2018 (152)
126 ILLUMINA ss3644759069 Oct 11, 2018 (152)
127 OMUKHERJEE_ADBS ss3646274070 Oct 11, 2018 (152)
128 URBANLAB ss3647192631 Oct 11, 2018 (152)
129 ILLUMINA ss3652476214 Oct 11, 2018 (152)
130 ILLUMINA ss3652476215 Oct 11, 2018 (152)
131 ILLUMINA ss3652476216 Oct 11, 2018 (152)
132 ILLUMINA ss3653956576 Oct 11, 2018 (152)
133 EGCUT_WGS ss3658629929 Jul 13, 2019 (153)
134 EVA_DECODE ss3705300452 Jul 13, 2019 (153)
135 ILLUMINA ss3725839747 Jul 13, 2019 (153)
136 ACPOP ss3729052494 Jul 13, 2019 (153)
137 ILLUMINA ss3744482176 Jul 13, 2019 (153)
138 ILLUMINA ss3745095521 Jul 13, 2019 (153)
139 ILLUMINA ss3745095522 Jul 13, 2019 (153)
140 EVA ss3757642966 Jul 13, 2019 (153)
141 PAGE_CC ss3770960412 Jul 13, 2019 (153)
142 ILLUMINA ss3772592134 Jul 13, 2019 (153)
143 ILLUMINA ss3772592135 Jul 13, 2019 (153)
144 KHV_HUMAN_GENOMES ss3802001938 Jul 13, 2019 (153)
145 EVA ss3823820170 Apr 25, 2020 (154)
146 EVA ss3825520007 Apr 25, 2020 (154)
147 EVA ss3825536697 Apr 25, 2020 (154)
148 EVA ss3825611416 Apr 25, 2020 (154)
149 EVA ss3827323757 Apr 25, 2020 (154)
150 EVA ss3837079445 Apr 25, 2020 (154)
151 EVA ss3842499016 Apr 25, 2020 (154)
152 HGDP ss3847639551 Apr 25, 2020 (154)
153 SGDP_PRJ ss3853844309 Apr 25, 2020 (154)
154 KRGDB ss3899463221 Apr 25, 2020 (154)
155 KOGIC ss3949378046 Apr 25, 2020 (154)
156 1000Genomes NC_000002.11 - 163124051 Oct 11, 2018 (152)
157 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 163124051 Oct 11, 2018 (152)
158 Genome-wide autozygosity in Daghestan NC_000002.10 - 162832297 Apr 25, 2020 (154)
159 Genetic variation in the Estonian population NC_000002.11 - 163124051 Oct 11, 2018 (152)
160 ExAC NC_000002.11 - 163124051 Oct 11, 2018 (152)
161 FINRISK NC_000002.11 - 163124051 Apr 25, 2020 (154)
162 The Danish reference pan genome NC_000002.11 - 163124051 Apr 25, 2020 (154)
163 gnomAD - Genomes NC_000002.11 - 163124051 Jul 13, 2019 (153)
164 gnomAD - Exomes NC_000002.11 - 163124051 Jul 13, 2019 (153)
165 GO Exome Sequencing Project NC_000002.11 - 163124051 Oct 11, 2018 (152)
166 Genome of the Netherlands Release 5 NC_000002.11 - 163124051 Apr 25, 2020 (154)
167 HGDP-CEPH-db Supplement 1 NC_000002.10 - 162832297 Apr 25, 2020 (154)
168 HapMap NC_000002.12 - 162267541 Apr 25, 2020 (154)
169 KOREAN population from KRGDB NC_000002.11 - 163124051 Apr 25, 2020 (154)
170 Korean Genome Project NC_000002.12 - 162267541 Apr 25, 2020 (154)
171 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 163124051 Apr 25, 2020 (154)
172 Northern Sweden NC_000002.11 - 163124051 Jul 13, 2019 (153)
173 The PAGE Study NC_000002.12 - 162267541 Jul 13, 2019 (153)
174 Qatari NC_000002.11 - 163124051 Apr 25, 2020 (154)
175 SGDP_PRJ NC_000002.11 - 163124051 Apr 25, 2020 (154)
176 Siberian NC_000002.11 - 163124051 Apr 25, 2020 (154)
177 TopMed NC_000002.12 - 162267541 Oct 11, 2018 (152)
178 UK 10K study - Twins NC_000002.11 - 163124051 Oct 11, 2018 (152)
179 A Vietnamese Genetic Variation Database NC_000002.11 - 163124051 Jul 13, 2019 (153)
180 dbGaP Population Frequency Project NC_000002.12 - 162267541 Apr 25, 2020 (154)
181 ClinVar RCV000245445.1 Oct 11, 2018 (152)
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)
rs3761653 Oct 09, 2002 (108)
rs34707823 May 23, 2006 (127)
rs52819809 Sep 21, 2007 (128)
rs58100036 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639153272, ss3639589522 NC_000002.9:162949557:C:T NC_000002.12:162267540:C:T (self)
260121, 317443, ss110173120, ss111186549, ss164689278, ss167369313, ss205583881, ss253635481, ss276761773, ss284474978, ss292413884, ss480370549, ss491793461, ss825436243, ss1397310233, ss1587013704, ss1712504942, ss2094909916, ss3643264760, ss3847639551 NC_000002.10:162832296:C:T NC_000002.12:162267540:C:T (self)
11225066, 6191988, 4368177, 6457724, 18048, 5338102, 30675122, 2125753, 278608, 2719988, 6640615, 101663, 2337359, 2872352, 5861289, 1528722, 6191988, 1343110, ss219620460, ss231444986, ss238936601, ss342083519, ss480382819, ss481155884, ss484982863, ss489837654, ss491326093, ss537018907, ss555998633, ss649645197, ss778475404, ss780806016, ss782937735, ss783487675, ss783900409, ss832193285, ss832858490, ss833931220, ss974444205, ss977578101, ss1067441883, ss1069656565, ss1300177483, ss1428802156, ss1579173163, ss1584021587, ss1605014370, ss1648008403, ss1686566673, ss1710985124, ss1752320237, ss1752320238, ss1917755185, ss1920830422, ss1946056451, ss1958473396, ss1968938230, ss2020947164, ss2095102333, ss2095102334, ss2149012368, ss2402458300, ss2624977810, ss2633697099, ss2633697100, ss2633697101, ss2703646513, ss2733067584, ss2746803168, ss2782101378, ss2985189316, ss2985810503, ss2990765256, ss3022034204, ss3023058688, ss3344577122, ss3628208121, ss3628208122, ss3631659251, ss3633222851, ss3633935580, ss3634795668, ss3634795669, ss3635621275, ss3636484987, ss3637373260, ss3638298593, ss3640502967, ss3640502968, ss3644759069, ss3646274070, ss3652476214, ss3652476215, ss3652476216, ss3653956576, ss3658629929, ss3729052494, ss3744482176, ss3745095521, ss3745095522, ss3757642966, ss3772592134, ss3772592135, ss3823820170, ss3825520007, ss3825536697, ss3825611416, ss3827323757, ss3837079445, ss3853844309, ss3899463221 NC_000002.11:163124050:C:T NC_000002.12:162267540:C:T (self)
RCV000245445.1, 1936090, 5756047, 181881, 209259003, 254364628, ss2236052484, ss3024235388, ss3328619102, ss3647192631, ss3705300452, ss3725839747, ss3770960412, ss3802001938, ss3842499016, ss3949378046 NC_000002.12:162267540:C:T NC_000002.12:162267540:C:T (self)
ss21701302 NT_005403.14:13333467:C:T NC_000002.12:162267540:C:T (self)
ss76887512 NT_005403.16:13333468:C:T NC_000002.12:162267540:C:T (self)
ss2902594, ss4947688, ss44168494, ss48403747, ss50392596, ss65717384, ss66610267, ss67213014, ss67606389, ss68833480, ss70691270, ss71256257, ss74811031, ss75453486, ss79105725, ss83937488, ss96443444, ss120037439, ss120245492, ss121875364, ss136083658, ss153805576, ss157919140, ss159346541, ss159702960, ss160485113, ss170928015, ss173028520, ss244255977, ss244286024 NT_005403.17:13333468:C:T NC_000002.12:162267540: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.

103 citations for rs1990760
PMID Title Author Year Journal
16699517 A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Smyth DJ et al. 2006 Nature genetics
17442111 The interferon induced with helicase domain 1 A946T polymorphism is not associated with rheumatoid arthritis. Marinou I et al. 2007 Arthritis research & therapy
17535987 Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. Sutherland A et al. 2007 The Journal of clinical endocrinology and metabolism
17554260 Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Todd JA et al. 2007 Nature genetics
17940599 Assembly of inflammation-related genes for pathway-focused genetic analysis. Loza MJ et al. 2007 PloS one
18026693 The A946T polymorphism in the interferon induced helicase gene does not confer susceptibility to Graves' disease in Chinese population. Zhao ZF et al. 2007 Endocrine
18071670 The association between the IFIH1 locus and type 1 diabetes. Qu HQ et al. 2008 Diabetologia
18285833 IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Martínez A et al. 2008 European journal of human genetics
18556337 Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1). Butty V et al. 2008 Diabetes
18647951 A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3. Concannon P et al. 2008 Diabetes
18776148 Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. Huber A et al. 2008 Endocrine reviews
18840781 Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Grant SF et al. 2009 Diabetes
18927125 IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells. Liu S et al. 2009 Human molecular genetics
18987646 The expanding genetic overlap between multiple sclerosis and type I diabetes. International Multiple Sclerosis Genetics Consortium (IMSGC). et al. 2009 Genes and immunity
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease. Smyth DJ et al. 2008 The New England journal of medicine
19156166 IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients. Couturier N et al. 2009 European journal of human genetics
19251732 Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage. Stanford JL et al. 2009 Human molecular genetics
19264985 Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Nejentsev S et al. 2009 Science (New York, N.Y.)
19359276 Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. Barton A et al. 2009 Human molecular genetics
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
19450885 Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1. Enevold C et al. 2009 Journal of neuroimmunology
19539001 IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population. Aminkeng F et al. 2009 Human immunology
19732865 A generalized family-based association test for dichotomous traits. Chen WM et al. 2009 American journal of human genetics
19838195 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Gateva V et al. 2009 Nature genetics
19841890 The interferon-induced helicase IFIH1 Ala946Thr polymorphism is associated with type 1 diabetes in both the high-incidence Finnish and the medium-incidence Hungarian populations. Jermendy A et al. 2010 Diabetologia
19951419 Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. Carr EJ et al. 2009 BMC medical genetics
19956101 Overview of the Rapid Response data. Brown WM et al. 2009 Genes and immunity
19956106 Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families. Howson JM et al. 2009 Genes and immunity
19956109 The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome. Julier C et al. 2009 Genes and immunity
19961590 The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease. Penna-Martinez M et al. 2009 BMC medical genetics
20018022 Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data. Deshmukh H et al. 2009 BMC proceedings
20203524 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. Pierce BL et al. 2010 Human heredity
20392289 Genetic associations in type I interferon related pathways with autoimmunity. Delgado-Vega AM et al. 2010 Arthritis research & therapy
20467774 Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis. Gono T et al. 2010 Modern rheumatology
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
20644636 Study of transcriptional effects in Cis at the IFIH1 locus. Zouk H et al. 2010 PloS one
20647273 Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis. Hinks A et al. 2010 Annals of the rheumatic diseases
20668468 Carriers of rare missense variants in IFIH1 are protected from psoriasis. Li Y et al. 2010 The Journal of investigative dermatology
20694011 Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. Ferreira RC et al. 2010 Nature genetics
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20844740 Reduced expression of IFIH1 is protective for type 1 diabetes. Downes K et al. 2010 PloS one
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
20933377 Recent findings on genetics of systemic autoimmune diseases. Delgado-Vega A et al. 2010 Current opinion in immunology
20953190 A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2. et al. 2010 Nature genetics
21055717 To identify associations with rare variants, just WHaIT: Weighted haplotype and imputation-based tests. Li Y et al. 2010 American journal of human genetics
21270831 Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population. Reddy MV et al. 2011 Genes and immunity
21594893 Detecting rare and common variants for complex traits: sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS). Feng T et al. 2011 Genetic epidemiology
21705624 Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-α and serologic autoimmunity in lupus patients. Robinson T et al. 2011 Journal of immunology (Baltimore, Md.
21826374 Selective IgA deficiency in autoimmune diseases. Wang N et al. 2011 Molecular medicine (Cambridge, Mass.)
21829393 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. Plagnol V et al. 2011 PLoS genetics
21852963 Pervasive sharing of genetic effects in autoimmune disease. Cotsapas C et al. 2011 PLoS genetics
21873553 Genetic analysis of adult-onset autoimmune diabetes. Howson JM et al. 2011 Diabetes
21980299 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP et al. 2011 PLoS genetics
22046141 Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. Cunninghame Graham DS et al. 2011 PLoS genetics
22053898 IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population. Yang H et al. 2012 Autoimmunity
22110759 Polymorphisms in the innate immune IFIH1 gene, frequency of enterovirus in monthly fecal samples during infancy, and islet autoimmunity. Witsø E et al. 2011 PloS one
22152027 Genetic variants in IFIH1 play opposite roles in the pathogenesis of psoriasis and chronic periodontitis. Chen G et al. 2012 International journal of immunogenetics
22187373 Why are C-section deliveries linked to childhood type 1 diabetes? Vehik K et al. 2012 Diabetes
22242199 Genetic factors of autoimmune thyroid diseases in Japanese. Ban Y et al. 2012 Autoimmune diseases
22315323 Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes. Steck AK et al. 2012 Diabetes
22479352 The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. Urbanek M et al. 2012 PloS one
22536486 Lupus nephritis: an overview of recent findings. de Zubiria Salgado A et al. 2012 Autoimmune diseases
22640752 The genetics of lupus: a functional perspective. Guerra SG et al. 2012 Arthritis research & therapy
22654555 The genetic basis of graves' disease. Płoski R et al. 2011 Current genomics
22753952 Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways. Vaughn SE et al. 2012 Journal of leukocyte biology
22770979 Presence of multiple independent effects in risk loci of common complex human diseases. Ke X et al. 2012 American journal of human genetics
22789000 Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease. Zurawek M et al. 2013 Clinical endocrinology
23036011 Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases. Huhn S et al. 2012 BMC medical genetics
23108955 Association study of IFIH1 rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population. Cen H et al. 2013 Inflammation
23144876 Enterovirus RNA in peripheral blood may be associated with the variants of rs1990760, a common type 1 diabetes associated polymorphism in IFIH1. Cinek O et al. 2012 PloS one
23326239 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). Rubicz R et al. 2013 PLoS genetics
23734776 Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: a meta-analysis. Cen H et al. 2013 Autoimmunity
23804261 From markers to molecular mechanisms: type 1 diabetes in the post-GWAS era. Baxter AG et al. 2012 The review of diabetic studies
24653663 Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations. J de AS et al. 2014 Current genomics
24661571 Laying a solid foundation for Manhattan--'setting the functional basis for the post-GWAS era'. Zhang X et al. 2014 Trends in genetics
24719229 Genetic polymorphisms of dsRNA ligating pattern recognition receptors TLR3, MDA5, and RIG-I. Association with systemic lupus erythematosus and clinical phenotypes. Enevold C et al. 2014 Rheumatology international
24949794 Assessment of genetic associations between common single nucleotide polymorphisms in RIG-I-like receptor and IL-4 signaling genes and severe respiratory syncytial virus infection in children: a candidate gene case-control study. Marr N et al. 2014 PloS one
24960033 Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population. Dou Q et al. 2014 Immunological investigations
25034154 Clinical perspectives on lupus genetics: advances and opportunities. James JA et al. 2014 Rheumatic diseases clinics of North America
25042601 Association analysis of PTPN22, CTLA4 and IFIH1 genes with type 1 diabetes in Colombian families. Rodríguez A et al. 2015 Journal of diabetes
25337792 Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population. Chen S et al. 2014 PloS one
25579795 The RIG-I-like helicase receptor MDA5 (IFIH1) is involved in the host defense against Candida infections. Jaeger M et al. 2015 European journal of clinical microbiology & infectious diseases
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
25829454 Novel Association Between Immune-Mediated Susceptibility Loci and Persistent Autoantibody Positivity in Type 1 Diabetes. Brorsson CA et al. 2015 Diabetes
26074154 Non-HLA gene effects on the disease process of type 1 diabetes: From HLA susceptibility to overt disease. Lempainen J et al. 2015 Journal of autoimmunity
26324017 Immunogenetics of systemic lupus erythematosus: A comprehensive review. Ghodke-Puranik Y et al. 2015 Journal of autoimmunity
26613086 Polymorphisms Associated with Age at Onset in Patients with Moderate-to-Severe Plaque Psoriasis. Prieto-Pérez R et al. 2015 Journal of immunology research
26678098 Association of Interleukin-23 receptor gene polymorphisms with susceptibility to Crohn's disease: A meta-analysis. Xu WD et al. 2015 Scientific reports
26904692 Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control. Brorsson CA et al. 2016 Journal of diabetes research
27047537 Using Incomplete Trios to Boost Confidence in Family Based Association Studies. Dhankani V et al. 2016 Frontiers in genetics
27716086 Association of CD247 (CD3ζ) gene polymorphisms with T1D and AITD in the population of northern Sweden. Holmberg D et al. 2016 BMC medical genetics
27810495 Psoriasis risk SNPs and their association with HIV-1 control. Nititham J et al. 2017 Human immunology
28000722 An IFIH1 gene polymorphism associated with risk for autoimmunity regulates canonical antiviral defence pathways in Coxsackievirus infected human pancreatic islets. Domsgen E et al. 2016 Scientific reports
28553952 The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity. Gorman JA et al. 2017 Nature immunology
28929635 Association between interferon-induced helicase (IFIH1) rs1990760 polymorphism and seasonal variation in the onset of type 1 diabetes mellitus. Jermendy Á et al. 2018 Pediatric diabetes
29070082 Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms. Lindén M et al. 2017 Biology of sex differences
29930297 Autoimmune disease associated IFIH1 single nucleotide polymorphism related with IL-18 serum levels in Chinese systemic lupus erythematosus patients. Zhang J et al. 2018 Scientific reports
29973096 Analysis of chosen polymorphisms rs2476601 a/G - PTPN22, rs1990760 C/T - IFIH1, rs179247 a/G - TSHR in pathogenesis of autoimmune thyroid diseases in children. Rydzewska M et al. 2018 Autoimmunity
30171347 Comprehensive assessment of the association between genes on JAK-STAT pathway (IFIH1, TYK2, IL-10) and systemic lupus erythematosus: a meta-analysis. Yin Q et al. 2018 Archives of dermatological research
30327483 Phenome-wide association studies across large population cohorts support drug target validation. Diogo D et al. 2018 Nature communications
30761886 The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition Onan D et al. 2019 Turkish journal of medical sciences
31539314 Association of rs2111485 and rs1990760 Polymorphisms of Interferon Induced with Helicase C Domain 1 Gene with Hepatitis C Virus Clearance in Chinese Han Population. Jiang W et al. 2019 Viral immunology
31733941 The interferon-induced helicase C domain-containing protein 1 gene variant (rs1990760) as an autoimmune-based pathology susceptibility factor. Wawrusiewicz-Kurylonek N et al. 2020 Immunobiology
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