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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.

rs2069763

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr4:122456327 (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
A=0.356335 (88751/249066, GnomAD_exome)
A=0.280852 (35266/125568, TOPMED)
A=0.346071 (41361/119516, ExAC) (+ 19 more)
A=0.31785 (29879/94004, ALFA Project)
A=0.27529 (21665/78698, PAGE_STUDY)
A=0.30674 (9596/31284, GnomAD)
A=0.25750 (3349/13006, GO-ESP)
A=0.2987 (1496/5008, 1000G)
A=0.3949 (1769/4480, Estonian)
A=0.3381 (1303/3854, ALSPAC)
A=0.3269 (1212/3708, TWINSUK)
C=0.4638 (1358/2928, KOREAN)
C=0.4569 (837/1832, Korea1K)
A=0.370 (369/998, GoNL)
A=0.364 (223/612, Vietnamese)
A=0.418 (251/600, NorthernSweden)
A=0.285 (152/534, MGP)
C=0.497 (151/304, FINRISK)
C=0.368 (103/280, SGDP_PRJ)
A=0.106 (23/216, Qatari)
C=0.41 (18/44, Siberian)
A=0.35 (14/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IL2 : Synonymous Variant
Publications
32 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 4 NC_000004.12:g.122456327C>A
GRCh38.p12 chr 4 NC_000004.12:g.122456327C>G
GRCh38.p12 chr 4 NC_000004.12:g.122456327C>T
GRCh37.p13 chr 4 NC_000004.11:g.123377482C>A
GRCh37.p13 chr 4 NC_000004.11:g.123377482C>G
GRCh37.p13 chr 4 NC_000004.11:g.123377482C>T
IL2 RefSeqGene NG_016779.1:g.5169G>T
IL2 RefSeqGene NG_016779.1:g.5169G>C
IL2 RefSeqGene NG_016779.1:g.5169G>A
Gene: IL2, interleukin 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
IL2 transcript NM_000586.4:c.114G>T L [CTG] > L [CTT] Coding Sequence Variant
interleukin-2 precursor NP_000577.2:p.Leu38= L (Leu) > L (Leu) Synonymous Variant
IL2 transcript NM_000586.4:c.114G>C L [CTG] > L [CTC] Coding Sequence Variant
interleukin-2 precursor NP_000577.2:p.Leu38= L (Leu) > L (Leu) Synonymous Variant
IL2 transcript NM_000586.4:c.114G>A L [CTG] > L [CTA] Coding Sequence Variant
interleukin-2 precursor NP_000577.2:p.Leu38= L (Leu) > L (Leu) Synonymous Variant
IL2 transcript variant X1 XM_017008177.1:c.114G>T L [CTG] > L [CTT] Coding Sequence Variant
interleukin-2 isoform X1 XP_016863666.1:p.Leu38= L (Leu) > L (Leu) Synonymous Variant
IL2 transcript variant X1 XM_017008177.1:c.114G>C L [CTG] > L [CTC] Coding Sequence Variant
interleukin-2 isoform X1 XP_016863666.1:p.Leu38= L (Leu) > L (Leu) Synonymous Variant
IL2 transcript variant X1 XM_017008177.1:c.114G>A L [CTG] > L [CTA] Coding Sequence Variant
interleukin-2 isoform X1 XP_016863666.1:p.Leu38= L (Leu) > L (Leu) Synonymous 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 94004 C=0.68215 A=0.31785
European Sub 81010 C=0.66918 A=0.33082
African Sub 6210 C=0.8733 A=0.1267
African Others Sub 208 C=0.923 A=0.077
African American Sub 6002 C=0.8715 A=0.1285
Asian Sub 286 C=0.608 A=0.392
East Asian Sub 186 C=0.522 A=0.478
Other Asian Sub 100 C=0.77 A=0.23
Latin American 1 Sub 484 C=0.762 A=0.238
Latin American 2 Sub 1300 C=0.5269 A=0.4731
South Asian Sub 64 C=0.67 A=0.33
Other Sub 4650 C=0.6927 A=0.3073


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 249066 C=0.643665 A=0.356335
gnomAD - Exomes European Sub 133872 C=0.636145 A=0.363855
gnomAD - Exomes Asian Sub 48782 C=0.65346 A=0.34654
gnomAD - Exomes American Sub 34176 C=0.49880 A=0.50120
gnomAD - Exomes African Sub 16188 C=0.88776 A=0.11224
gnomAD - Exomes Ashkenazi Jewish Sub 10004 C=0.78229 A=0.21771
gnomAD - Exomes Other Sub 6044 C=0.6671 A=0.3329
TopMed Global Study-wide 125568 C=0.719148 A=0.280852
ExAC Global Study-wide 119516 C=0.653929 A=0.346071
ExAC Europe Sub 72236 C=0.64653 A=0.35347
ExAC Asian Sub 24918 C=0.65523 A=0.34477
ExAC American Sub 11194 C=0.48857 A=0.51143
ExAC African Sub 10270 C=0.88160 A=0.11840
ExAC Other Sub 898 C=0.670 A=0.330
ALFA Total Global 94004 C=0.68215 A=0.31785
ALFA European Sub 81010 C=0.66918 A=0.33082
ALFA African Sub 6210 C=0.8733 A=0.1267
ALFA Other Sub 4650 C=0.6927 A=0.3073
ALFA Latin American 2 Sub 1300 C=0.5269 A=0.4731
ALFA Latin American 1 Sub 484 C=0.762 A=0.238
ALFA Asian Sub 286 C=0.608 A=0.392
ALFA South Asian Sub 64 C=0.67 A=0.33
The PAGE Study Global Study-wide 78698 C=0.72471 A=0.27529
The PAGE Study AfricanAmerican Sub 32514 C=0.87541 A=0.12459
The PAGE Study Mexican Sub 10808 C=0.53007 A=0.46993
The PAGE Study Asian Sub 8318 C=0.4977 A=0.5023
The PAGE Study PuertoRican Sub 7918 C=0.7072 A=0.2928
The PAGE Study NativeHawaiian Sub 4534 C=0.6956 A=0.3044
The PAGE Study Cuban Sub 4230 C=0.7225 A=0.2775
The PAGE Study Dominican Sub 3828 C=0.7832 A=0.2168
The PAGE Study CentralAmerican Sub 2450 C=0.5539 A=0.4461
The PAGE Study SouthAmerican Sub 1982 C=0.5721 A=0.4279
The PAGE Study NativeAmerican Sub 1260 C=0.6183 A=0.3817
The PAGE Study SouthAsian Sub 856 C=0.728 A=0.272
gnomAD - Genomes Global Study-wide 31284 C=0.69326 A=0.30674
gnomAD - Genomes European Sub 18820 C=0.62418 A=0.37582
gnomAD - Genomes African Sub 8702 C=0.8866 A=0.1134
gnomAD - Genomes East Asian Sub 1546 C=0.5259 A=0.4741
gnomAD - Genomes Other Sub 1086 C=0.6344 A=0.3656
gnomAD - Genomes American Sub 840 C=0.588 A=0.412
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.793 A=0.207
GO Exome Sequencing Project Global Study-wide 13006 C=0.74250 A=0.25750
GO Exome Sequencing Project European American Sub 8600 C=0.6755 A=0.3245
GO Exome Sequencing Project African American Sub 4406 C=0.8734 A=0.1266
1000Genomes Global Study-wide 5008 C=0.7013 A=0.2987
1000Genomes African Sub 1322 C=0.9228 A=0.0772
1000Genomes East Asian Sub 1008 C=0.5387 A=0.4613
1000Genomes Europe Sub 1006 C=0.6551 A=0.3449
1000Genomes South Asian Sub 978 C=0.715 A=0.285
1000Genomes American Sub 694 C=0.563 A=0.437
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6051 A=0.3949
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6619 A=0.3381
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6731 A=0.3269
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.4638 A=0.5362, G=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 C=0.4569 A=0.5431
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.630 A=0.370
A Vietnamese Genetic Variation Database Global Study-wide 612 C=0.636 A=0.364
Northern Sweden ACPOP Study-wide 600 C=0.582 A=0.418
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.715 A=0.285
FINRISK Finnish from FINRISK project Study-wide 304 C=0.497 A=0.503
SGDP_PRJ Global Study-wide 280 C=0.368 A=0.632
Qatari Global Study-wide 216 C=0.894 A=0.106
Siberian Global Study-wide 44 C=0.41 A=0.59
The Danish reference pan genome Danish Study-wide 40 C=0.65 A=0.35
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 4 NC_000004.12:g.122456327= NC_000004.12:g.122456327C>A NC_000004.12:g.122456327C>G NC_000004.12:g.122456327C>T
GRCh37.p13 chr 4 NC_000004.11:g.123377482= NC_000004.11:g.123377482C>A NC_000004.11:g.123377482C>G NC_000004.11:g.123377482C>T
IL2 RefSeqGene NG_016779.1:g.5169= NG_016779.1:g.5169G>T NG_016779.1:g.5169G>C NG_016779.1:g.5169G>A
IL2 transcript NM_000586.4:c.114= NM_000586.4:c.114G>T NM_000586.4:c.114G>C NM_000586.4:c.114G>A
IL2 transcript NM_000586.3:c.114= NM_000586.3:c.114G>T NM_000586.3:c.114G>C NM_000586.3:c.114G>A
IL2 transcript variant X1 XM_017008177.1:c.114= XM_017008177.1:c.114G>T XM_017008177.1:c.114G>C XM_017008177.1:c.114G>A
interleukin-2 precursor NP_000577.2:p.Leu38= NP_000577.2:p.Leu38= NP_000577.2:p.Leu38= NP_000577.2:p.Leu38=
interleukin-2 isoform X1 XP_016863666.1:p.Leu38= XP_016863666.1:p.Leu38= XP_016863666.1:p.Leu38= XP_016863666.1:p.Leu38=
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#.

117 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 PGA-UW-FHCRC ss2981873 Jun 15, 2001 (96)
2 YUSUKE ss3253882 Sep 28, 2001 (100)
3 WI_SSAHASNP ss6675846 Feb 20, 2003 (111)
4 FHCRC ss16383708 Feb 27, 2004 (120)
5 PERLEGEN ss23953999 Sep 20, 2004 (123)
6 PGA-UW-FHCRC ss52087608 Oct 15, 2006 (127)
7 JDRF_WT_DIL ss69356077 May 17, 2007 (127)
8 CGM_KYOTO ss76865440 Dec 06, 2007 (129)
9 HGSV ss78410881 Dec 06, 2007 (129)
10 HGSV ss83545636 Dec 15, 2007 (130)
11 CORNELL ss86239208 Mar 23, 2008 (129)
12 BCMHGSC_JDW ss92756539 Mar 24, 2008 (129)
13 BGI ss104112543 Dec 01, 2009 (131)
14 1000GENOMES ss108296568 Jan 23, 2009 (130)
15 VANHEEL_LAB_LONDON ss120247381 Dec 01, 2009 (131)
16 WTCCC ss120253533 Dec 01, 2009 (131)
17 GMI ss157840418 Dec 01, 2009 (131)
18 SEATTLESEQ ss159708392 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss162505256 Jul 04, 2010 (132)
20 1000GENOMES ss221185205 Jul 14, 2010 (132)
21 1000GENOMES ss232578254 Jul 14, 2010 (132)
22 1000GENOMES ss239828659 Jul 15, 2010 (132)
23 BL ss253484483 May 09, 2011 (134)
24 GMI ss277907694 May 04, 2012 (137)
25 GMI ss284996883 Apr 25, 2013 (138)
26 PJP ss293178301 May 09, 2011 (134)
27 NHLBI-ESP ss342170888 May 09, 2011 (134)
28 ILLUMINA ss479565200 May 04, 2012 (137)
29 ILLUMINA ss480409039 May 04, 2012 (137)
30 ILLUMINA ss480422315 May 04, 2012 (137)
31 ILLUMINA ss481204433 Sep 08, 2015 (146)
32 ILLUMINA ss484688182 May 04, 2012 (137)
33 ILLUMINA ss485002065 May 04, 2012 (137)
34 1000GENOMES ss490894229 May 04, 2012 (137)
35 CLINSEQ_SNP ss491859571 May 04, 2012 (137)
36 ILLUMINA ss537033642 Sep 08, 2015 (146)
37 TISHKOFF ss557821097 Apr 25, 2013 (138)
38 SSMP ss651630626 Apr 25, 2013 (138)
39 ILLUMINA ss778479529 Aug 21, 2014 (142)
40 ILLUMINA ss778659358 Sep 08, 2015 (146)
41 ILLUMINA ss781013097 Sep 08, 2015 (146)
42 ILLUMINA ss782947333 Aug 21, 2014 (142)
43 ILLUMINA ss783909778 Aug 21, 2014 (142)
44 ILLUMINA ss832203182 Apr 01, 2015 (144)
45 ILLUMINA ss833935388 Aug 21, 2014 (142)
46 ILLUMINA ss834117492 Sep 08, 2015 (146)
47 JMKIDD_LAB ss974453894 Aug 21, 2014 (142)
48 EVA-GONL ss980621878 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1067464090 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1071915153 Aug 21, 2014 (142)
51 1000GENOMES ss1311610657 Aug 21, 2014 (142)
52 EVA_GENOME_DK ss1580754671 Apr 01, 2015 (144)
53 EVA_FINRISK ss1584036147 Apr 01, 2015 (144)
54 EVA_DECODE ss1590129699 Apr 01, 2015 (144)
55 EVA_UK10K_ALSPAC ss1611069991 Apr 01, 2015 (144)
56 EVA_UK10K_TWINSUK ss1654064024 Apr 01, 2015 (144)
57 EVA_EXAC ss1687629107 Apr 01, 2015 (144)
58 EVA_MGP ss1711070866 Apr 01, 2015 (144)
59 ILLUMINA ss1752495785 Sep 08, 2015 (146)
60 WEILL_CORNELL_DGM ss1923864682 Feb 12, 2016 (147)
61 ILLUMINA ss1958717543 Feb 12, 2016 (147)
62 GENOMED ss1969855539 Jul 19, 2016 (147)
63 JJLAB ss2022515736 Sep 14, 2016 (149)
64 ILLUMINA ss2094936246 Dec 20, 2016 (150)
65 ILLUMINA ss2095149312 Dec 20, 2016 (150)
66 USC_VALOUEV ss2150646764 Dec 20, 2016 (150)
67 HUMAN_LONGEVITY ss2266725885 Dec 20, 2016 (150)
68 TOPMED ss2434594979 Dec 20, 2016 (150)
69 SYSTEMSBIOZJU ss2625754657 Nov 08, 2017 (151)
70 ILLUMINA ss2634172355 Nov 08, 2017 (151)
71 ILLUMINA ss2634172356 Nov 08, 2017 (151)
72 ILLUMINA ss2635136661 Nov 08, 2017 (151)
73 GRF ss2706130528 Nov 08, 2017 (151)
74 GNOMAD ss2734721383 Nov 08, 2017 (151)
75 GNOMAD ss2747299360 Nov 08, 2017 (151)
76 GNOMAD ss2814671329 Nov 08, 2017 (151)
77 AFFY ss2985302830 Nov 08, 2017 (151)
78 AFFY ss2985930011 Nov 08, 2017 (151)
79 SWEGEN ss2995471568 Nov 08, 2017 (151)
80 ILLUMINA ss3022411659 Nov 08, 2017 (151)
81 EVA_SAMSUNG_MC ss3023060847 Nov 08, 2017 (151)
82 BIOINF_KMB_FNS_UNIBA ss3025034951 Nov 08, 2017 (151)
83 CSHL ss3345937367 Nov 08, 2017 (151)
84 TOPMED ss3441422822 Nov 08, 2017 (151)
85 ILLUMINA ss3629056847 Oct 12, 2018 (152)
86 ILLUMINA ss3632105690 Oct 12, 2018 (152)
87 ILLUMINA ss3632105691 Oct 12, 2018 (152)
88 ILLUMINA ss3633347764 Oct 12, 2018 (152)
89 ILLUMINA ss3634067227 Oct 12, 2018 (152)
90 ILLUMINA ss3634969250 Oct 12, 2018 (152)
91 ILLUMINA ss3636675109 Oct 12, 2018 (152)
92 ILLUMINA ss3637502398 Oct 12, 2018 (152)
93 ILLUMINA ss3638509630 Oct 12, 2018 (152)
94 ILLUMINA ss3640676543 Oct 12, 2018 (152)
95 OMUKHERJEE_ADBS ss3646312334 Oct 12, 2018 (152)
96 ILLUMINA ss3652900693 Oct 12, 2018 (152)
97 ILLUMINA ss3652900694 Oct 12, 2018 (152)
98 ILLUMINA ss3654074480 Oct 12, 2018 (152)
99 EGCUT_WGS ss3663374101 Jul 13, 2019 (153)
100 EVA_DECODE ss3712965064 Jul 13, 2019 (153)
101 ILLUMINA ss3726167637 Jul 13, 2019 (153)
102 ACPOP ss3731563989 Jul 13, 2019 (153)
103 ILLUMINA ss3745269490 Jul 13, 2019 (153)
104 EVA ss3762350791 Jul 13, 2019 (153)
105 PAGE_CC ss3771151498 Jul 13, 2019 (153)
106 ILLUMINA ss3772763984 Jul 13, 2019 (153)
107 KHV_HUMAN_GENOMES ss3805505884 Jul 13, 2019 (153)
108 EVA ss3824044347 Apr 26, 2020 (154)
109 EVA ss3825522103 Apr 26, 2020 (154)
110 EVA ss3825538362 Apr 26, 2020 (154)
111 EVA ss3825663880 Apr 26, 2020 (154)
112 EVA ss3828783358 Apr 26, 2020 (154)
113 EVA ss3837836192 Apr 26, 2020 (154)
114 EVA ss3843275378 Apr 26, 2020 (154)
115 SGDP_PRJ ss3859946207 Apr 26, 2020 (154)
116 KRGDB ss3906247034 Apr 26, 2020 (154)
117 KOGIC ss3955027353 Apr 26, 2020 (154)
118 1000Genomes NC_000004.11 - 123377482 Oct 12, 2018 (152)
119 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 123377482 Oct 12, 2018 (152)
120 Genetic variation in the Estonian population NC_000004.11 - 123377482 Oct 12, 2018 (152)
121 ExAC NC_000004.11 - 123377482 Oct 12, 2018 (152)
122 FINRISK NC_000004.11 - 123377482 Apr 26, 2020 (154)
123 The Danish reference pan genome NC_000004.11 - 123377482 Apr 26, 2020 (154)
124 gnomAD - Genomes NC_000004.11 - 123377482 Jul 13, 2019 (153)
125 gnomAD - Exomes NC_000004.11 - 123377482 Jul 13, 2019 (153)
126 GO Exome Sequencing Project NC_000004.11 - 123377482 Oct 12, 2018 (152)
127 Genome of the Netherlands Release 5 NC_000004.11 - 123377482 Apr 26, 2020 (154)
128 KOREAN population from KRGDB NC_000004.11 - 123377482 Apr 26, 2020 (154)
129 Korean Genome Project NC_000004.12 - 122456327 Apr 26, 2020 (154)
130 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 123377482 Apr 26, 2020 (154)
131 Northern Sweden NC_000004.11 - 123377482 Jul 13, 2019 (153)
132 The PAGE Study NC_000004.12 - 122456327 Jul 13, 2019 (153)
133 Qatari NC_000004.11 - 123377482 Apr 26, 2020 (154)
134 SGDP_PRJ NC_000004.11 - 123377482 Apr 26, 2020 (154)
135 Siberian NC_000004.11 - 123377482 Apr 26, 2020 (154)
136 TopMed NC_000004.12 - 122456327 Oct 12, 2018 (152)
137 UK 10K study - Twins NC_000004.11 - 123377482 Oct 12, 2018 (152)
138 A Vietnamese Genetic Variation Database NC_000004.11 - 123377482 Jul 13, 2019 (153)
139 dbGaP Population Frequency Project NC_000004.12 - 122456327 Apr 26, 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)
rs58787434 May 24, 2008 (130)
rs117267315 Aug 16, 2010 (132)
rs386556268 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78410881, ss83545636 NC_000004.9:123735086:C:A NC_000004.12:122456326:C:A (self)
ss92756539, ss108296568, ss162505256, ss253484483, ss277907694, ss284996883, ss293178301, ss480409039, ss484688182, ss491859571, ss1590129699, ss2094936246, ss2635136661 NC_000004.10:123596931:C:A NC_000004.12:122456326:C:A (self)
23077772, 12839269, 9112349, 7605410, 32608, 6919610, 63071926, 3831391, 502533, 5681296, 13424428, 186626, 4848854, 5906612, 11963187, 3163118, 12839269, 2825067, ss221185205, ss232578254, ss239828659, ss342170888, ss479565200, ss480422315, ss481204433, ss485002065, ss490894229, ss537033642, ss557821097, ss651630626, ss778479529, ss778659358, ss781013097, ss782947333, ss783909778, ss832203182, ss833935388, ss834117492, ss974453894, ss980621878, ss1067464090, ss1071915153, ss1311610657, ss1580754671, ss1584036147, ss1611069991, ss1654064024, ss1687629107, ss1711070866, ss1752495785, ss1923864682, ss1958717543, ss1969855539, ss2022515736, ss2095149312, ss2150646764, ss2434594979, ss2625754657, ss2634172355, ss2634172356, ss2706130528, ss2734721383, ss2747299360, ss2814671329, ss2985302830, ss2985930011, ss2995471568, ss3022411659, ss3023060847, ss3345937367, ss3629056847, ss3632105690, ss3632105691, ss3633347764, ss3634067227, ss3634969250, ss3636675109, ss3637502398, ss3638509630, ss3640676543, ss3646312334, ss3652900693, ss3652900694, ss3654074480, ss3663374101, ss3731563989, ss3745269490, ss3762350791, ss3772763984, ss3824044347, ss3825522103, ss3825538362, ss3825663880, ss3828783358, ss3837836192, ss3859946207, ss3906247034 NC_000004.11:123377481:C:A NC_000004.12:122456326:C:A (self)
11405354, 372967, 292303206, 550523566, ss2266725885, ss3025034951, ss3441422822, ss3712965064, ss3726167637, ss3771151498, ss3805505884, ss3843275378, ss3955027353 NC_000004.12:122456326:C:A NC_000004.12:122456326:C:A (self)
ss2981873, ss3253882, ss6675846, ss16383708, ss23953999, ss52087608, ss69356077, ss76865440, ss86239208, ss104112543, ss120247381, ss120253533, ss157840418, ss159708392 NT_016354.19:47925202:C:A NC_000004.12:122456326:C:A (self)
13424428, ss3906247034 NC_000004.11:123377481:C:G NC_000004.12:122456326:C:G
13424428, ss3906247034 NC_000004.11:123377481:C:T NC_000004.12:122456326:C:T
Help

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

32 citations for rs2069763
PMID Title Author Year Journal
17152005 Associations between measles vaccine immunity and single-nucleotide polymorphisms in cytokine and cytokine receptor genes. Dhiman N et al. 2007 The Journal of infectious diseases
17705862 Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples. Pullat J et al. 2007 BMC genomics
18598732 Vaccine immunogenetics: bedside to bench to population. Poland GA et al. 2008 Vaccine
18628433 Cervical and vulvar cancer risk in relation to the joint effects of cigarette smoking and genetic variation in interleukin 2. Hussain SK et al. 2008 Cancer epidemiology, biomarkers & prevention
18650128 G/T polymorphism in the interleukin-2 exon 1 region among Han Chinese systemic lupus erythematosus patients in Taiwan. Lin YJ et al. 2008 Clinical immunology (Orlando, Fla.)
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease. Smyth DJ et al. 2008 The New England journal of medicine
19356949 Cytokine SNPs: Comparison of allele frequencies by race and implications for future studies. Van Dyke AL et al. 2009 Cytokine
19951419 Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. Carr EJ et al. 2009 BMC medical genetics
20184734 The 4q27 locus and prostate cancer risk. Tindall EA et al. 2010 BMC cancer
21829393 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. Plagnol V et al. 2011 PLoS genetics
21873553 Genetic analysis of adult-onset autoimmune diabetes. Howson JM et al. 2011 Diabetes
21926633 IFN-γ 874A>T genotype is associated with higher CCR5 expression in peripheral blood mononuclear cells from HIV+ patients. Liptrott NJ et al. 2011 Journal of acquired immune deficiency syndromes (1999)
22377791 Association of genetic polymorphisms of interleukins with new-onset diabetes after transplantation in renal transplantation. Kim YG et al. 2012 Transplantation
22479496 Compensatory T-cell regulation in unaffected relatives of SLE patients, and opposite IL-2/CD25-mediated effects suggested by coreferentiality modeling. Fesel C et al. 2012 PloS one
22844404 Evidence of associations between cytokine genes and subjective reports of sleep disturbance in oncology patients and their family caregivers. Miaskowski C et al. 2012 PloS one
22891215 Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes. Howson JM et al. 2012 Diabetes
24281113 Inflammatory genetic markers of prostate cancer risk. Tindall EA et al. 2010 Cancers
24309190 Genetics of new-onset diabetes after transplantation. McCaughan JA et al. 2014 Journal of the American Society of Nephrology
24502445 Cytokine candidate genes predict the development of secondary lymphedema following breast cancer surgery. Leung G et al. 2014 Lymphatic research and biology
25037274 Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population. Bouzid D et al. 2014 Molecular biology reports
25075970 The associations between immunity-related genes and breast cancer prognosis in Korean women. Choi J et al. 2014 PloS one
25238536 Association of cytokines in individuals sensitive and insensitive to dust mites in a Brazilian population. Caniatti MC et al. 2014 PloS one
27051588 Analysis of single nucleotide polymorphisms implicate mTOR signalling in the development of new-onset diabetes after transplantation. Chand S et al. 2016 BBA clinical
28111424 Effects of Soy Product Intake and Interleukin Genetic Polymorphisms on Early Gastric Cancer Risk in Korea: A Case-Control Study. Yang S et al. 2017 Cancer research and treatment
28159384 Single nucleotide polymorphisms of IL-2, but not IL-12 and IFN-γ, are associated with increased susceptibility to chronic spontaneous urticaria. Movahedi M et al. 2017 Allergologia et immunopathologia
28366330 Cytokine polymorphisms are associated with daytime napping in adults living with HIV. Byun E et al. 2017 Sleep medicine
28458166 Polymorphisms and haplotypes of the interleukin 2 gene are associated with an increased risk of gastric cancer. The possible involvement of Helicobacter pylori. Melchiades JL et al. 2017 Cytokine
29288086 Autoimmune hepatitis association with single nucleotide polymorphism of interleukin-2, but not interferon-gamma. Yousefi A et al. 2018 Clinics and research in hepatology and gastroenterology
29862067 Comparison of SNP Genotypes Related to Proliferative Vitreoretinopathy (PVR) across Slovenian and European Subpopulations. Lumi X et al. 2018 Journal of ophthalmology
30341786 Recurrent aphthous stomatitis and gene variability in selected interleukins: a case-control study. Borilova Linhartova P et al. 2018 European journal of oral sciences
30729267 IL-2 gene polymorphisms affect tacrolimus response in myasthenia gravis. Shumei Y et al. 2019 European journal of clinical pharmacology
30807515 SINGLE NUCLEOTIDE POLYMORPHISMS IN RETINAL DETACHMENT PATIENTS WITH AND WITHOUT PROLIFERATIVE VITREORETINOPATHY. Lumi X et al. 2020 Retina (Philadelphia, Pa.)
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