Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1043261

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:53865249 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.085158 (30921/363102, ALFA)
T=0.088643 (23463/264690, TOPMED)
T=0.099586 (24849/249524, GnomAD_exome) (+ 26 more)
T=0.083331 (11679/140152, GnomAD)
T=0.099260 (11962/120512, ExAC)
T=0.10328 (8128/78696, PAGE_STUDY)
T=0.10471 (2959/28258, 14KJPN)
T=0.10501 (1760/16760, 8.3KJPN)
T=0.08396 (1092/13006, GO-ESP)
T=0.1309 (838/6404, 1000G_30x)
T=0.1352 (677/5008, 1000G)
T=0.0491 (220/4480, Estonian)
T=0.0760 (293/3854, ALSPAC)
T=0.0833 (309/3708, TWINSUK)
T=0.1057 (309/2922, KOREAN)
T=0.1473 (307/2084, HGDP_Stanford)
T=0.1158 (219/1892, HapMap)
T=0.1347 (153/1136, Daghestan)
T=0.079 (79/998, GoNL)
T=0.219 (134/613, Vietnamese)
T=0.072 (43/600, NorthernSweden)
T=0.092 (49/534, MGP)
T=0.059 (18/304, FINRISK)
T=0.069 (15/216, Qatari)
C=0.447 (76/170, SGDP_PRJ)
T=0.03 (2/72, Ancient Sardinia)
T=0.05 (2/40, GENOME_DK)
C=0.5 (3/6, Siberian)
T=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IL17RB : Stop Gained
ACTR8 : Intron Variant
Publications
5 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 379314 C=0.915091 T=0.084909
European Sub 321122 C=0.920077 T=0.079923
African Sub 16520 C=0.91035 T=0.08965
African Others Sub 594 C=0.926 T=0.074
African American Sub 15926 C=0.90977 T=0.09023
Asian Sub 6978 C=0.8186 T=0.1814
East Asian Sub 5010 C=0.8513 T=0.1487
Other Asian Sub 1968 C=0.7353 T=0.2647
Latin American 1 Sub 1134 C=0.9004 T=0.0996
Latin American 2 Sub 7226 C=0.9048 T=0.0952
South Asian Sub 5226 C=0.8395 T=0.1605
Other Sub 21108 C=0.89791 T=0.10209


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
Allele Frequency Aggregator Total Global 363102 C=0.914842 T=0.085158
Allele Frequency Aggregator European Sub 311162 C=0.919884 T=0.080116
Allele Frequency Aggregator Other Sub 19676 C=0.89612 T=0.10388
Allele Frequency Aggregator African Sub 11700 C=0.91094 T=0.08906
Allele Frequency Aggregator Latin American 2 Sub 7226 C=0.9048 T=0.0952
Allele Frequency Aggregator Asian Sub 6978 C=0.8186 T=0.1814
Allele Frequency Aggregator South Asian Sub 5226 C=0.8395 T=0.1605
Allele Frequency Aggregator Latin American 1 Sub 1134 C=0.9004 T=0.0996
TopMed Global Study-wide 264690 C=0.911357 T=0.088643
gnomAD - Exomes Global Study-wide 249524 C=0.900414 T=0.099586
gnomAD - Exomes European Sub 133546 C=0.926714 T=0.073286
gnomAD - Exomes Asian Sub 48994 C=0.81430 T=0.18570
gnomAD - Exomes American Sub 34562 C=0.90649 T=0.09351
gnomAD - Exomes African Sub 16232 C=0.91153 T=0.08847
gnomAD - Exomes Ashkenazi Jewish Sub 10076 C=0.92686 T=0.07314
gnomAD - Exomes Other Sub 6114 C=0.9086 T=0.0914
gnomAD - Genomes Global Study-wide 140152 C=0.916669 T=0.083331
gnomAD - Genomes European Sub 75922 C=0.92679 T=0.07321
gnomAD - Genomes African Sub 41992 C=0.91222 T=0.08778
gnomAD - Genomes American Sub 13638 C=0.90050 T=0.09950
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.9352 T=0.0648
gnomAD - Genomes East Asian Sub 3128 C=0.7906 T=0.2094
gnomAD - Genomes Other Sub 2152 C=0.9033 T=0.0967
ExAC Global Study-wide 120512 C=0.900740 T=0.099260
ExAC Europe Sub 72800 C=0.92731 T=0.07269
ExAC Asian Sub 25082 C=0.81688 T=0.18312
ExAC American Sub 11502 C=0.90723 T=0.09277
ExAC African Sub 10226 C=0.90964 T=0.09036
ExAC Other Sub 902 C=0.905 T=0.095
The PAGE Study Global Study-wide 78696 C=0.89672 T=0.10328
The PAGE Study AfricanAmerican Sub 32512 C=0.91511 T=0.08489
The PAGE Study Mexican Sub 10810 C=0.91443 T=0.08557
The PAGE Study Asian Sub 8318 C=0.8626 T=0.1374
The PAGE Study PuertoRican Sub 7918 C=0.9105 T=0.0895
The PAGE Study NativeHawaiian Sub 4534 C=0.7289 T=0.2711
The PAGE Study Cuban Sub 4230 C=0.9028 T=0.0972
The PAGE Study Dominican Sub 3826 C=0.9258 T=0.0742
The PAGE Study CentralAmerican Sub 2450 C=0.9106 T=0.0894
The PAGE Study SouthAmerican Sub 1982 C=0.9021 T=0.0979
The PAGE Study NativeAmerican Sub 1260 C=0.9238 T=0.0762
The PAGE Study SouthAsian Sub 856 C=0.815 T=0.185
14KJPN JAPANESE Study-wide 28258 C=0.89529 T=0.10471
8.3KJPN JAPANESE Study-wide 16760 C=0.89499 T=0.10501
GO Exome Sequencing Project Global Study-wide 13006 C=0.91604 T=0.08396
GO Exome Sequencing Project European American Sub 8600 C=0.9210 T=0.0790
GO Exome Sequencing Project African American Sub 4406 C=0.9063 T=0.0937
1000Genomes_30x Global Study-wide 6404 C=0.8691 T=0.1309
1000Genomes_30x African Sub 1786 C=0.9127 T=0.0873
1000Genomes_30x Europe Sub 1266 C=0.9273 T=0.0727
1000Genomes_30x South Asian Sub 1202 C=0.8095 T=0.1905
1000Genomes_30x East Asian Sub 1170 C=0.7821 T=0.2179
1000Genomes_30x American Sub 980 C=0.892 T=0.108
1000Genomes Global Study-wide 5008 C=0.8648 T=0.1352
1000Genomes African Sub 1322 C=0.9085 T=0.0915
1000Genomes East Asian Sub 1008 C=0.7867 T=0.2133
1000Genomes Europe Sub 1006 C=0.9294 T=0.0706
1000Genomes South Asian Sub 978 C=0.804 T=0.196
1000Genomes American Sub 694 C=0.888 T=0.112
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9509 T=0.0491
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9240 T=0.0760
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9167 T=0.0833
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.8943 T=0.1057
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8527 T=0.1473
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.828 T=0.172
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.821 T=0.179
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.914 T=0.086
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.928 T=0.072
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.872 T=0.128
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.810 T=0.190
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.62 T=0.38
HapMap Global Study-wide 1892 C=0.8842 T=0.1158
HapMap American Sub 770 C=0.884 T=0.116
HapMap African Sub 692 C=0.889 T=0.111
HapMap Asian Sub 254 C=0.850 T=0.150
HapMap Europe Sub 176 C=0.915 T=0.085
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.8653 T=0.1347
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.852 T=0.148
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.924 T=0.076
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.885 T=0.115
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.917 T=0.083
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.77 T=0.23
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.92 T=0.08
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.921 T=0.079
A Vietnamese Genetic Variation Database Global Study-wide 613 C=0.781 T=0.219
Northern Sweden ACPOP Study-wide 600 C=0.928 T=0.072
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.908 T=0.092
FINRISK Finnish from FINRISK project Study-wide 304 C=0.941 T=0.059
Qatari Global Study-wide 216 C=0.931 T=0.069
SGDP_PRJ Global Study-wide 170 C=0.447 T=0.553
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 C=0.97 T=0.03
The Danish reference pan genome Danish Study-wide 40 C=0.95 T=0.05
Siberian Global Study-wide 6 C=0.5 T=0.5
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 3 NC_000003.12:g.53865249C>A
GRCh38.p14 chr 3 NC_000003.12:g.53865249C>T
GRCh37.p13 chr 3 NC_000003.11:g.53899276C>A
GRCh37.p13 chr 3 NC_000003.11:g.53899276C>T
Gene: ACTR8, actin related protein 8 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTR8 transcript variant 1 NM_022899.5:c. N/A Genic Downstream Transcript Variant
ACTR8 transcript variant X1 XM_005265587.6:c.*46-230G…

XM_005265587.6:c.*46-230G>T

 		N/A Intron Variant
ACTR8 transcript variant X2 XM_011534249.4:c. N/A Genic Downstream Transcript Variant
ACTR8 transcript variant X2 XM_047449238.1:c. N/A Genic Downstream Transcript Variant
ACTR8 transcript variant X3 XM_047449239.1:c. N/A Genic Downstream Transcript Variant
Gene: IL17RB, interleukin 17 receptor B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IL17RB transcript NM_018725.4:c.1450C>A Q [CAG] > K [AAG] Coding Sequence Variant
interleukin-17 receptor B precursor NP_061195.2:p.Gln484Lys Q (Gln) > K (Lys) Missense Variant
IL17RB transcript NM_018725.4:c.1450C>T Q [CAG] > * [TAG] Coding Sequence Variant
interleukin-17 receptor B precursor NP_061195.2:p.Gln484Ter Q (Gln) > * (Ter) Stop Gained
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T
GRCh38.p14 chr 3 NC_000003.12:g.53865249= NC_000003.12:g.53865249C>A NC_000003.12:g.53865249C>T
GRCh37.p13 chr 3 NC_000003.11:g.53899276= NC_000003.11:g.53899276C>A NC_000003.11:g.53899276C>T
IL17RB transcript NM_018725.4:c.1450= NM_018725.4:c.1450C>A NM_018725.4:c.1450C>T
IL17RB transcript NM_018725.3:c.1450= NM_018725.3:c.1450C>A NM_018725.3:c.1450C>T
IL17RB transcript variant 2 NM_172234.1:c.*1611= NM_172234.1:c.*1611C>A NM_172234.1:c.*1611C>T
interleukin-17 receptor B precursor NP_061195.2:p.Gln484= NP_061195.2:p.Gln484Lys NP_061195.2:p.Gln484Ter
ACTR8 transcript variant X1 XM_005265587.1:c.*46-230= XM_005265587.1:c.*46-230G>T XM_005265587.1:c.*46-230G>A
ACTR8 transcript variant X1 XM_005265587.6:c.*46-230= XM_005265587.6:c.*46-230G>T XM_005265587.6:c.*46-230G>A
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#.

178 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1511263 Oct 05, 2000 (86)
2 LEE ss4390971 May 29, 2002 (106)
3 LEE ss4404939 May 29, 2002 (106)
4 YUSUKE ss4960686 Aug 28, 2002 (108)
5 BCM_SSAHASNP ss10050330 Jul 11, 2003 (116)
6 BCM_SSAHASNP ss14185088 Dec 05, 2003 (119)
7 CGAP-GAI ss16250134 Feb 27, 2004 (120)
8 PERLEGEN ss23945774 Sep 20, 2004 (123)
9 SEQUENOM ss24787761 Sep 20, 2004 (123)
10 ABI ss44431976 Mar 13, 2006 (126)
11 APPLERA_GI ss48413861 Mar 13, 2006 (126)
12 ILLUMINA ss65724643 Oct 15, 2006 (127)
13 ILLUMINA ss66569788 Nov 30, 2006 (127)
14 ILLUMINA ss66882960 Nov 30, 2006 (127)
15 ILLUMINA ss66976762 Nov 30, 2006 (127)
16 PERLEGEN ss68861317 May 17, 2007 (127)
17 PGA-UW-FHCRC ss69358428 May 17, 2007 (127)
18 ILLUMINA ss70365599 May 17, 2007 (127)
19 ILLUMINA ss70478671 May 26, 2008 (130)
20 ILLUMINA ss71002020 May 17, 2007 (127)
21 AFFY ss74808142 Aug 16, 2007 (128)
22 ILLUMINA ss74950240 Dec 07, 2007 (129)
23 KRIBB_YJKIM ss83672368 Dec 16, 2007 (130)
24 CANCER-GENOME ss86343363 Mar 23, 2008 (129)
25 HUMANGENOME_JCVI ss96010681 Feb 06, 2009 (130)
26 1000GENOMES ss111697024 Jan 25, 2009 (130)
27 ILLUMINA ss121305302 Dec 01, 2009 (131)
28 ENSEMBL ss133216244 Dec 01, 2009 (131)
29 ILLUMINA ss152725068 Dec 01, 2009 (131)
30 ILLUMINA ss159123427 Dec 01, 2009 (131)
31 ILLUMINA ss159893256 Dec 01, 2009 (131)
32 ILLUMINA ss169383939 Jul 04, 2010 (132)
33 ILLUMINA ss170073233 Jul 04, 2010 (132)
34 BUSHMAN ss202521586 Jul 04, 2010 (132)
35 1000GENOMES ss220136725 Jul 14, 2010 (132)
36 1000GENOMES ss231820336 Jul 14, 2010 (132)
37 1000GENOMES ss239234525 Jul 15, 2010 (132)
38 ILLUMINA ss244268919 Jul 04, 2010 (132)
39 BL ss253092420 May 09, 2011 (134)
40 GMI ss277125350 May 04, 2012 (137)
41 PJP ss292796177 May 09, 2011 (134)
42 NHLBI-ESP ss342135952 May 09, 2011 (134)
43 ILLUMINA ss479265800 May 04, 2012 (137)
44 ILLUMINA ss479268710 May 04, 2012 (137)
45 ILLUMINA ss479638879 Sep 08, 2015 (146)
46 ILLUMINA ss484433551 May 04, 2012 (137)
47 1000GENOMES ss489885292 May 04, 2012 (137)
48 EXOME_CHIP ss491341326 May 04, 2012 (137)
49 CLINSEQ_SNP ss491836307 May 04, 2012 (137)
50 ILLUMINA ss536604673 Sep 08, 2015 (146)
51 TISHKOFF ss556614485 Apr 25, 2013 (138)
52 SSMP ss650292551 Apr 25, 2013 (138)
53 ILLUMINA ss778731270 Sep 08, 2015 (146)
54 ILLUMINA ss780818183 Sep 08, 2015 (146)
55 ILLUMINA ss782663241 Sep 08, 2015 (146)
56 ILLUMINA ss783500501 Sep 08, 2015 (146)
57 ILLUMINA ss783632114 Sep 08, 2015 (146)
58 ILLUMINA ss825335330 Apr 01, 2015 (144)
59 ILLUMINA ss831913781 Sep 08, 2015 (146)
60 ILLUMINA ss832636145 Jul 13, 2019 (153)
61 ILLUMINA ss834190767 Sep 08, 2015 (146)
62 JMKIDD_LAB ss974448503 Aug 21, 2014 (142)
63 EVA-GONL ss978591355 Aug 21, 2014 (142)
64 JMKIDD_LAB ss1067452099 Aug 21, 2014 (142)
65 JMKIDD_LAB ss1070407501 Aug 21, 2014 (142)
66 1000GENOMES ss1304009114 Aug 21, 2014 (142)
67 HAMMER_LAB ss1397337592 Sep 08, 2015 (146)
68 EVA_GENOME_DK ss1579962291 Apr 01, 2015 (144)
69 EVA_FINRISK ss1584028352 Apr 01, 2015 (144)
70 EVA_DECODE ss1588062853 Apr 01, 2015 (144)
71 EVA_UK10K_ALSPAC ss1607072256 Apr 01, 2015 (144)
72 EVA_UK10K_TWINSUK ss1650066289 Apr 01, 2015 (144)
73 EVA_EXAC ss1687062456 Apr 01, 2015 (144)
74 EVA_MGP ss1711019947 Apr 01, 2015 (144)
75 EVA_SVP ss1712575572 Apr 01, 2015 (144)
76 ILLUMINA ss1752475610 Sep 08, 2015 (146)
77 ILLUMINA ss1752475611 Sep 08, 2015 (146)
78 HAMMER_LAB ss1799276916 Sep 08, 2015 (146)
79 ILLUMINA ss1917768477 Feb 12, 2016 (147)
80 WEILL_CORNELL_DGM ss1921830923 Feb 12, 2016 (147)
81 ILLUMINA ss1946084270 Feb 12, 2016 (147)
82 ILLUMINA ss1946084271 Feb 12, 2016 (147)
83 ILLUMINA ss1958565756 Feb 12, 2016 (147)
84 ILLUMINA ss1958565757 Feb 12, 2016 (147)
85 GENOMED ss1969391763 Jul 19, 2016 (147)
86 JJLAB ss2021474435 Sep 14, 2016 (149)
87 ILLUMINA ss2094931136 Dec 20, 2016 (150)
88 ILLUMINA ss2095133294 Dec 20, 2016 (150)
89 ILLUMINA ss2095133295 Dec 20, 2016 (150)
90 USC_VALOUEV ss2149548314 Dec 20, 2016 (150)
91 HUMAN_LONGEVITY ss2251593504 Dec 20, 2016 (150)
92 ILLUMINA ss2633949164 Nov 08, 2017 (151)
93 GRF ss2704921956 Nov 08, 2017 (151)
94 ILLUMINA ss2710972668 Nov 08, 2017 (151)
95 GNOMAD ss2733840098 Nov 08, 2017 (151)
96 GNOMAD ss2747032877 Nov 08, 2017 (151)
97 GNOMAD ss2792992726 Nov 08, 2017 (151)
98 AFFY ss2985258108 Nov 08, 2017 (151)
99 SWEGEN ss2992317279 Nov 08, 2017 (151)
100 ILLUMINA ss3022241663 Nov 08, 2017 (151)
101 ILLUMINA ss3022241664 Nov 08, 2017 (151)
102 CSHL ss3345017664 Nov 08, 2017 (151)
103 ILLUMINA ss3625816018 Oct 12, 2018 (152)
104 ILLUMINA ss3628661425 Oct 12, 2018 (152)
105 ILLUMINA ss3628661426 Oct 12, 2018 (152)
106 ILLUMINA ss3631895225 Oct 12, 2018 (152)
107 ILLUMINA ss3633292098 Oct 12, 2018 (152)
108 ILLUMINA ss3634009136 Oct 12, 2018 (152)
109 ILLUMINA ss3634895978 Oct 12, 2018 (152)
110 ILLUMINA ss3634895979 Oct 12, 2018 (152)
111 ILLUMINA ss3635693084 Oct 12, 2018 (152)
112 ILLUMINA ss3636590779 Oct 12, 2018 (152)
113 ILLUMINA ss3637445444 Oct 12, 2018 (152)
114 ILLUMINA ss3638415201 Oct 12, 2018 (152)
115 ILLUMINA ss3639210103 Oct 12, 2018 (152)
116 ILLUMINA ss3639623017 Oct 12, 2018 (152)
117 ILLUMINA ss3640603279 Oct 12, 2018 (152)
118 ILLUMINA ss3640603280 Oct 12, 2018 (152)
119 ILLUMINA ss3643372169 Oct 12, 2018 (152)
120 ILLUMINA ss3644816846 Oct 12, 2018 (152)
121 ILLUMINA ss3644816847 Oct 12, 2018 (152)
122 BIOINF_KMB_FNS_UNIBA ss3645712510 Oct 12, 2018 (152)
123 OMUKHERJEE_ADBS ss3646287091 Oct 12, 2018 (152)
124 URBANLAB ss3647403547 Oct 12, 2018 (152)
125 ILLUMINA ss3652716226 Oct 12, 2018 (152)
126 ILLUMINA ss3652716227 Oct 12, 2018 (152)
127 ILLUMINA ss3652716228 Oct 12, 2018 (152)
128 ILLUMINA ss3654026542 Oct 12, 2018 (152)
129 EGCUT_WGS ss3660239142 Jul 13, 2019 (153)
130 EVA_DECODE ss3709234266 Jul 13, 2019 (153)
131 ILLUMINA ss3726017499 Jul 13, 2019 (153)
132 ACPOP ss3729886193 Jul 13, 2019 (153)
133 ILLUMINA ss3744214882 Jul 13, 2019 (153)
134 ILLUMINA ss3744511640 Jul 13, 2019 (153)
135 ILLUMINA ss3745195750 Jul 13, 2019 (153)
136 ILLUMINA ss3745195751 Jul 13, 2019 (153)
137 EVA ss3760034251 Jul 13, 2019 (153)
138 PAGE_CC ss3771033118 Jul 13, 2019 (153)
139 ILLUMINA ss3772691400 Jul 13, 2019 (153)
140 ILLUMINA ss3772691401 Jul 13, 2019 (153)
141 KHV_HUMAN_GENOMES ss3803169798 Jul 13, 2019 (153)
142 EVA ss3823925389 Apr 25, 2020 (154)
143 EVA ss3825635157 Apr 25, 2020 (154)
144 EVA ss3827808857 Apr 25, 2020 (154)
145 HGDP ss3847707261 Apr 25, 2020 (154)
146 SGDP_PRJ ss3855847013 Apr 25, 2020 (154)
147 KRGDB ss3901706297 Apr 25, 2020 (154)
148 FSA-LAB ss3984252468 Apr 26, 2021 (155)
149 FSA-LAB ss3984252469 Apr 26, 2021 (155)
150 EVA ss3984990869 Apr 26, 2021 (155)
151 EVA ss3986242075 Apr 26, 2021 (155)
152 TOPMED ss4564780883 Apr 26, 2021 (155)
153 TOMMO_GENOMICS ss5159174226 Apr 26, 2021 (155)
154 EVA ss5236997491 Apr 26, 2021 (155)
155 EVA ss5237323783 Apr 26, 2021 (155)
156 EVA ss5237639716 Oct 12, 2022 (156)
157 1000G_HIGH_COVERAGE ss5254091811 Oct 12, 2022 (156)
158 EVA ss5314855973 Oct 12, 2022 (156)
159 EVA ss5339823298 Oct 12, 2022 (156)
160 HUGCELL_USP ss5453481337 Oct 12, 2022 (156)
161 EVA ss5506993460 Oct 12, 2022 (156)
162 1000G_HIGH_COVERAGE ss5532463015 Oct 12, 2022 (156)
163 EVA ss5624128750 Oct 12, 2022 (156)
164 SANFORD_IMAGENETICS ss5624518332 Oct 12, 2022 (156)
165 SANFORD_IMAGENETICS ss5632131588 Oct 12, 2022 (156)
166 TOMMO_GENOMICS ss5690844654 Oct 12, 2022 (156)
167 EVA ss5799578226 Oct 12, 2022 (156)
168 EVA ss5800051307 Oct 12, 2022 (156)
169 YY_MCH ss5803738582 Oct 12, 2022 (156)
170 EVA ss5825756488 Oct 12, 2022 (156)
171 EVA ss5847217609 Oct 12, 2022 (156)
172 EVA ss5847966223 Oct 12, 2022 (156)
173 EVA ss5848584479 Oct 12, 2022 (156)
174 EVA ss5853611290 Oct 12, 2022 (156)
175 EVA ss5868841049 Oct 12, 2022 (156)
176 EVA ss5960425571 Oct 12, 2022 (156)
177 EVA ss5979656289 Oct 12, 2022 (156)
178 EVA ss5981215109 Oct 12, 2022 (156)
179 1000Genomes NC_000003.11 - 53899276 Oct 12, 2018 (152)
180 1000Genomes_30x NC_000003.12 - 53865249 Oct 12, 2022 (156)
181 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 53899276 Oct 12, 2018 (152)
182 Genome-wide autozygosity in Daghestan NC_000003.10 - 53874316 Apr 25, 2020 (154)
183 Genetic variation in the Estonian population NC_000003.11 - 53899276 Oct 12, 2018 (152)
184 ExAC NC_000003.11 - 53899276 Oct 12, 2018 (152)
185 FINRISK NC_000003.11 - 53899276 Apr 25, 2020 (154)
186 The Danish reference pan genome NC_000003.11 - 53899276 Apr 25, 2020 (154)
187 gnomAD - Genomes NC_000003.12 - 53865249 Apr 26, 2021 (155)
188 gnomAD - Exomes NC_000003.11 - 53899276 Jul 13, 2019 (153)
189 GO Exome Sequencing Project NC_000003.11 - 53899276 Oct 12, 2018 (152)
190 Genome of the Netherlands Release 5 NC_000003.11 - 53899276 Apr 25, 2020 (154)
191 HGDP-CEPH-db Supplement 1 NC_000003.10 - 53874316 Apr 25, 2020 (154)
192 HapMap NC_000003.12 - 53865249 Apr 25, 2020 (154)
193 KOREAN population from KRGDB NC_000003.11 - 53899276 Apr 25, 2020 (154)
194 Medical Genome Project healthy controls from Spanish population NC_000003.11 - 53899276 Apr 25, 2020 (154)
195 Northern Sweden NC_000003.11 - 53899276 Jul 13, 2019 (153)
196 The PAGE Study NC_000003.12 - 53865249 Jul 13, 2019 (153)
197 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000003.11 - 53899276 Apr 26, 2021 (155)
198 Qatari NC_000003.11 - 53899276 Apr 25, 2020 (154)
199 SGDP_PRJ NC_000003.11 - 53899276 Apr 25, 2020 (154)
200 Siberian NC_000003.11 - 53899276 Apr 25, 2020 (154)
201 8.3KJPN NC_000003.11 - 53899276 Apr 26, 2021 (155)
202 14KJPN NC_000003.12 - 53865249 Oct 12, 2022 (156)
203 TopMed NC_000003.12 - 53865249 Apr 26, 2021 (155)
204 UK 10K study - Twins NC_000003.11 - 53899276 Oct 12, 2018 (152)
205 A Vietnamese Genetic Variation Database NC_000003.11 - 53899276 Jul 13, 2019 (153)
206 ALFA NC_000003.12 - 53865249 Apr 26, 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)
rs3172490 Jul 03, 2002 (106)
rs3774623 Oct 08, 2002 (108)
rs52833728 Sep 21, 2007 (128)
rs61401369 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2733840098 NC_000003.11:53899275:C:A NC_000003.12:53865248:C:A (self)
ss3639210103, ss3639623017 NC_000003.9:53874315:C:T NC_000003.12:53865248:C:T (self)
313593, 385153, ss111697024, ss202521586, ss253092420, ss277125350, ss292796177, ss479265800, ss491836307, ss825335330, ss1397337592, ss1588062853, ss1712575572, ss2094931136, ss3643372169, ss3847707261 NC_000003.10:53874315:C:T NC_000003.12:53865248:C:T (self)
15197301, 8452602, 5977390, 6990427, 24813, 6127230, 2919567, 383712, 3705888, 8883691, 136486, 3171058, 216796, 3872853, 7863993, 2064668, 17143533, 8452602, 1835371, ss220136725, ss231820336, ss239234525, ss342135952, ss479268710, ss479638879, ss484433551, ss489885292, ss491341326, ss536604673, ss556614485, ss650292551, ss778731270, ss780818183, ss782663241, ss783500501, ss783632114, ss831913781, ss832636145, ss834190767, ss974448503, ss978591355, ss1067452099, ss1070407501, ss1304009114, ss1579962291, ss1584028352, ss1607072256, ss1650066289, ss1687062456, ss1711019947, ss1752475610, ss1752475611, ss1799276916, ss1917768477, ss1921830923, ss1946084270, ss1946084271, ss1958565756, ss1958565757, ss1969391763, ss2021474435, ss2095133294, ss2095133295, ss2149548314, ss2633949164, ss2704921956, ss2710972668, ss2733840098, ss2747032877, ss2792992726, ss2985258108, ss2992317279, ss3022241663, ss3022241664, ss3345017664, ss3625816018, ss3628661425, ss3628661426, ss3631895225, ss3633292098, ss3634009136, ss3634895978, ss3634895979, ss3635693084, ss3636590779, ss3637445444, ss3638415201, ss3640603279, ss3640603280, ss3644816846, ss3644816847, ss3646287091, ss3652716226, ss3652716227, ss3652716228, ss3654026542, ss3660239142, ss3729886193, ss3744214882, ss3744511640, ss3745195750, ss3745195751, ss3760034251, ss3772691400, ss3772691401, ss3823925389, ss3825635157, ss3827808857, ss3855847013, ss3901706297, ss3984252468, ss3984252469, ss3984990869, ss3986242075, ss5159174226, ss5237323783, ss5314855973, ss5339823298, ss5506993460, ss5624128750, ss5624518332, ss5632131588, ss5799578226, ss5800051307, ss5825756488, ss5847217609, ss5847966223, ss5848584479, ss5960425571, ss5979656289, ss5981215109 NC_000003.11:53899275:C:T NC_000003.12:53865248:C:T (self)
19988950, 107894951, 2359357, 254587, 24681758, 402158438, 5529644216, ss2251593504, ss3645712510, ss3647403547, ss3709234266, ss3726017499, ss3771033118, ss3803169798, ss4564780883, ss5236997491, ss5237639716, ss5254091811, ss5453481337, ss5532463015, ss5690844654, ss5803738582, ss5853611290, ss5868841049 NC_000003.12:53865248:C:T NC_000003.12:53865248:C:T (self)
ss10050330 NT_005999.15:2837084:C:T NC_000003.12:53865248:C:T (self)
ss14185088 NT_022517.16:53821623:C:T NC_000003.12:53865248:C:T (self)
ss1511263, ss4390971, ss4404939, ss4960686, ss16250134, ss23945774, ss24787761, ss44431976, ss48413861, ss65724643, ss66569788, ss66882960, ss66976762, ss68861317, ss69358428, ss70365599, ss70478671, ss71002020, ss74808142, ss74950240, ss83672368, ss86343363, ss96010681, ss121305302, ss133216244, ss152725068, ss159123427, ss159893256, ss169383939, ss170073233, ss244268919 NT_022517.18:53839275:C:T NC_000003.12:53865248: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.

5 citations for rs1043261
PMID Title Author Year Journal
21606320 Genetic associations with sporadic neuroendocrine tumor risk. Ter-Minassian M et al. 2011 Carcinogenesis
22377791 Association of genetic polymorphisms of interleukins with new-onset diabetes after transplantation in renal transplantation. Kim YG et al. 2012 Transplantation
24309190 Genetics of new-onset diabetes after transplantation. McCaughan JA et al. 2014 Journal of the American Society of Nephrology
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
31623129 Validation of Identified Susceptible Gene Variants for New-Onset Diabetes in Renal Transplant Recipients. Hwang HS et al. 2019 Journal of clinical 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.post761+d5e8e07