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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.

rs229541

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr22:37195278 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.487003 (61152/125568, TOPMED)
A=0.442449 (49480/111832, ALFA Project)
G=0.43023 (33852/78684, PAGE_STUDY) (+ 16 more)
A=0.48841 (15297/31320, GnomAD)
G=0.4465 (2236/5008, 1000G)
A=0.3679 (1648/4480, Estonian)
A=0.4211 (1623/3854, ALSPAC)
A=0.4277 (1586/3708, TWINSUK)
G=0.2464 (722/2930, KOREAN)
G=0.3983 (674/1692, HapMap)
A=0.387 (386/998, GoNL)
A=0.387 (242/626, Chileans)
A=0.435 (261/600, NorthernSweden)
G=0.289 (119/412, SGDP_PRJ)
G=0.500 (108/216, Qatari)
A=0.500 (108/216, Qatari)
G=0.386 (81/210, Vietnamese)
A=0.33 (13/40, GENOME_DK)
G=0.28 (11/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
C1QTNF6 : Intron Variant
Publications
17 citations
Genomic View
See rs on genome
Help

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

Genomic Placements
Sequence name Change
GRCh38.p12 chr 22 NC_000022.11:g.37195278G>A
GRCh38.p12 chr 22 NC_000022.11:g.37195278G>T
GRCh37.p13 chr 22 NC_000022.10:g.37591318G>A
GRCh37.p13 chr 22 NC_000022.10:g.37591318G>T
Gene: C1QTNF6, C1q and TNF related 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
C1QTNF6 transcript variant 3 NM_001365878.1:c.-71+2325…

NM_001365878.1:c.-71+2325C>T

N/A Intron Variant
C1QTNF6 transcript variant 1 NM_031910.4:c. N/A Genic Upstream Transcript Variant
C1QTNF6 transcript variant 2 NM_182486.2:c. N/A Genic Upstream Transcript Variant
C1QTNF6 transcript variant X7 XM_011529857.2:c.-71+103C…

XM_011529857.2:c.-71+103C>T

N/A Intron Variant
C1QTNF6 transcript variant X1 XM_024452150.1:c.-190+103…

XM_024452150.1:c.-190+103C>T

N/A Intron Variant
C1QTNF6 transcript variant X2 XM_024452151.1:c.-190+103…

XM_024452151.1:c.-190+103C>T

N/A Intron Variant
C1QTNF6 transcript variant X3 XM_024452152.1:c.-190+103…

XM_024452152.1:c.-190+103C>T

N/A Intron Variant
C1QTNF6 transcript variant X5 XM_024452153.1:c.-190+103…

XM_024452153.1:c.-190+103C>T

N/A Intron Variant
C1QTNF6 transcript variant X6 XM_024452154.1:c.-190+103…

XM_024452154.1:c.-190+103C>T

N/A Intron Variant
C1QTNF6 transcript variant X8 XM_024452155.1:c.-247+103…

XM_024452155.1:c.-247+103C>T

N/A Intron Variant
C1QTNF6 transcript variant X4 XM_017028569.1:c. N/A Genic Upstream Transcript 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 111832 G=0.557551 A=0.442449
European Sub 92958 G=0.57039 A=0.42961
African Sub 4886 G=0.3637 A=0.6363
African Others Sub 160 G=0.381 A=0.619
African American Sub 4726 G=0.3631 A=0.6369
Asian Sub 178 G=0.343 A=0.657
East Asian Sub 114 G=0.333 A=0.667
Other Asian Sub 64 G=0.36 A=0.64
Latin American 1 Sub 548 G=0.473 A=0.527
Latin American 2 Sub 6212 G=0.5344 A=0.4656
South Asian Sub 74 G=0.53 A=0.47
Other Sub 6976 G=0.5553 A=0.4447


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.487003 A=0.512997
ALFA Total Global 111832 G=0.557551 A=0.442449
ALFA European Sub 92958 G=0.57039 A=0.42961
ALFA Other Sub 6976 G=0.5553 A=0.4447
ALFA Latin American 2 Sub 6212 G=0.5344 A=0.4656
ALFA African Sub 4886 G=0.3637 A=0.6363
ALFA Latin American 1 Sub 548 G=0.473 A=0.527
ALFA Asian Sub 178 G=0.343 A=0.657
ALFA South Asian Sub 74 G=0.53 A=0.47
The PAGE Study Global Study-wide 78684 G=0.43023 A=0.56977
The PAGE Study AfricanAmerican Sub 32504 G=0.37494 A=0.62506
The PAGE Study Mexican Sub 10810 G=0.55449 A=0.44551
The PAGE Study Asian Sub 8316 G=0.3296 A=0.6704
The PAGE Study PuertoRican Sub 7914 G=0.4912 A=0.5088
The PAGE Study NativeHawaiian Sub 4534 G=0.3547 A=0.6453
The PAGE Study Cuban Sub 4230 G=0.5071 A=0.4929
The PAGE Study Dominican Sub 3828 G=0.4525 A=0.5475
The PAGE Study CentralAmerican Sub 2450 G=0.5331 A=0.4669
The PAGE Study SouthAmerican Sub 1982 G=0.5399 A=0.4601
The PAGE Study NativeAmerican Sub 1260 G=0.5706 A=0.4294
The PAGE Study SouthAsian Sub 856 G=0.541 A=0.459
gnomAD - Genomes Global Study-wide 31320 G=0.51159 A=0.48841
gnomAD - Genomes European Sub 18868 G=0.58824 A=0.41176
gnomAD - Genomes African Sub 8682 G=0.3667 A=0.6333
gnomAD - Genomes East Asian Sub 1550 G=0.3226 A=0.6774
gnomAD - Genomes Other Sub 1082 G=0.5702 A=0.4298
gnomAD - Genomes American Sub 848 G=0.548 A=0.452
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.545 A=0.455
1000Genomes Global Study-wide 5008 G=0.4465 A=0.5535
1000Genomes African Sub 1322 G=0.3238 A=0.6762
1000Genomes East Asian Sub 1008 G=0.3125 A=0.6875
1000Genomes Europe Sub 1006 G=0.5755 A=0.4245
1000Genomes South Asian Sub 978 G=0.549 A=0.451
1000Genomes American Sub 694 G=0.543 A=0.457
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6321 A=0.3679
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5789 A=0.4211
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5723 A=0.4277
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2464 A=0.7536, T=0.0000
HapMap Global Study-wide 1692 G=0.3983 A=0.6017
HapMap African Sub 690 G=0.355 A=0.645
HapMap American Sub 578 G=0.443 A=0.557
HapMap Asian Sub 252 G=0.310 A=0.690
HapMap Europe Sub 172 G=0.552 A=0.448
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.613 A=0.387
Chileans Chilean Study-wide 626 G=0.613 A=0.387
Northern Sweden ACPOP Study-wide 600 G=0.565 A=0.435
SGDP_PRJ Global Study-wide 412 G=0.289 A=0.711
Qatari Global Study-wide 216 G=0.500 A=0.500
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.386 A=0.614
The Danish reference pan genome Danish Study-wide 40 G=0.68 A=0.33
Siberian Global Study-wide 40 G=0.28 A=0.72
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 G= A T
GRCh38.p12 chr 22 NC_000022.11:g.37195278= NC_000022.11:g.37195278G>A NC_000022.11:g.37195278G>T
GRCh37.p13 chr 22 NC_000022.10:g.37591318= NC_000022.10:g.37591318G>A NC_000022.10:g.37591318G>T
C1QTNF6 transcript variant 3 NM_001365878.1:c.-71+2325= NM_001365878.1:c.-71+2325C>T NM_001365878.1:c.-71+2325C>A
C1QTNF6 transcript variant X3 XM_005261327.1:c.-881+103= XM_005261327.1:c.-881+103C>T XM_005261327.1:c.-881+103C>A
C1QTNF6 transcript variant X7 XM_011529857.2:c.-71+103= XM_011529857.2:c.-71+103C>T XM_011529857.2:c.-71+103C>A
C1QTNF6 transcript variant X1 XM_024452150.1:c.-190+103= XM_024452150.1:c.-190+103C>T XM_024452150.1:c.-190+103C>A
C1QTNF6 transcript variant X2 XM_024452151.1:c.-190+103= XM_024452151.1:c.-190+103C>T XM_024452151.1:c.-190+103C>A
C1QTNF6 transcript variant X3 XM_024452152.1:c.-190+103= XM_024452152.1:c.-190+103C>T XM_024452152.1:c.-190+103C>A
C1QTNF6 transcript variant X5 XM_024452153.1:c.-190+103= XM_024452153.1:c.-190+103C>T XM_024452153.1:c.-190+103C>A
C1QTNF6 transcript variant X6 XM_024452154.1:c.-190+103= XM_024452154.1:c.-190+103C>T XM_024452154.1:c.-190+103C>A
C1QTNF6 transcript variant X8 XM_024452155.1:c.-247+103= XM_024452155.1:c.-247+103C>T XM_024452155.1:c.-247+103C>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#.

104 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss297067 Jul 12, 2000 (79)
2 KWOK ss1244481 Oct 05, 2000 (87)
3 KWOK ss2048836 Oct 18, 2000 (87)
4 SC_JCM ss4046893 Sep 28, 2001 (117)
5 SC_SNP ss7997626 Apr 21, 2003 (126)
6 BCM_SSAHASNP ss11004773 Jul 11, 2003 (116)
7 SC_SNP ss13359319 Dec 05, 2003 (120)
8 PERLEGEN ss24601554 Sep 20, 2004 (123)
9 ABI ss44295462 Mar 10, 2006 (126)
10 KRIBB_YJKIM ss65825378 Dec 01, 2006 (127)
11 AFFY ss66247957 Dec 01, 2006 (127)
12 PERLEGEN ss69272697 May 18, 2007 (127)
13 AFFY ss76393338 Dec 07, 2007 (129)
14 HGSV ss78253798 Dec 07, 2007 (129)
15 HGSV ss81374188 Dec 14, 2007 (130)
16 KRIBB_YJKIM ss81411192 Dec 14, 2007 (130)
17 HGSV ss83050777 Dec 14, 2007 (130)
18 HUMANGENOME_JCVI ss96125470 Feb 04, 2009 (130)
19 BGI ss103863563 Dec 01, 2009 (131)
20 1000GENOMES ss112648145 Jan 25, 2009 (130)
21 1000GENOMES ss114212387 Jan 25, 2009 (130)
22 ILLUMINA-UK ss117405776 Feb 14, 2009 (130)
23 ENSEMBL ss143438470 Dec 01, 2009 (131)
24 GMI ss157182232 Dec 01, 2009 (131)
25 ILLUMINA ss160531814 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss167949173 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss169259117 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss171979225 Jul 04, 2010 (132)
29 AFFY ss173461391 Jul 04, 2010 (132)
30 BUSHMAN ss204089947 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss208827298 Jul 04, 2010 (132)
32 1000GENOMES ss228683495 Jul 14, 2010 (132)
33 1000GENOMES ss238072117 Jul 15, 2010 (132)
34 1000GENOMES ss244189373 Jul 15, 2010 (132)
35 GMI ss283638296 May 04, 2012 (137)
36 GMI ss287570450 Apr 25, 2013 (138)
37 PJP ss292762222 May 09, 2011 (134)
38 ILLUMINA ss481341726 Sep 08, 2015 (146)
39 EXOME_CHIP ss491571364 May 04, 2012 (137)
40 TISHKOFF ss566645866 Apr 25, 2013 (138)
41 SSMP ss662575577 Apr 25, 2013 (138)
42 ILLUMINA ss780683297 Sep 08, 2015 (146)
43 ILLUMINA ss783356687 Sep 08, 2015 (146)
44 EVA-GONL ss995360334 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1082664774 Aug 21, 2014 (142)
46 1000GENOMES ss1367196558 Aug 21, 2014 (142)
47 DDI ss1429259210 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1579756283 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1640012001 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1683006034 Apr 01, 2015 (144)
51 EVA_DECODE ss1699430473 Apr 01, 2015 (144)
52 EVA_SVP ss1713741905 Apr 01, 2015 (144)
53 ILLUMINA ss1752421245 Sep 08, 2015 (146)
54 HAMMER_LAB ss1809792709 Sep 08, 2015 (146)
55 ILLUMINA ss1917955733 Feb 12, 2016 (147)
56 WEILL_CORNELL_DGM ss1938926895 Feb 12, 2016 (147)
57 ILLUMINA ss1946590942 Feb 12, 2016 (147)
58 ILLUMINA ss1959980252 Feb 12, 2016 (147)
59 GENOMED ss1969274409 Jul 19, 2016 (147)
60 JJLAB ss2030235684 Sep 14, 2016 (149)
61 ILLUMINA ss2094923669 Dec 20, 2016 (150)
62 ILLUMINA ss2095123254 Dec 20, 2016 (150)
63 ILLUMINA ss2095123255 Dec 20, 2016 (150)
64 USC_VALOUEV ss2158854895 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2247394955 Dec 20, 2016 (150)
66 TOPMED ss2414359368 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2629615148 Nov 08, 2017 (151)
68 ILLUMINA ss2633879556 Nov 08, 2017 (151)
69 ILLUMINA ss2633879557 Nov 08, 2017 (151)
70 ILLUMINA ss2635112202 Nov 08, 2017 (151)
71 GRF ss2704606878 Nov 08, 2017 (151)
72 GNOMAD ss2974471334 Nov 08, 2017 (151)
73 AFFY ss2985238838 Nov 08, 2017 (151)
74 AFFY ss2985855252 Nov 08, 2017 (151)
75 SWEGEN ss3019317258 Nov 08, 2017 (151)
76 ILLUMINA ss3022187064 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3028955134 Nov 08, 2017 (151)
78 CSHL ss3352841909 Nov 08, 2017 (151)
79 TOPMED ss3377375752 Nov 08, 2017 (151)
80 ILLUMINA ss3628536539 Oct 12, 2018 (152)
81 ILLUMINA ss3634868317 Oct 12, 2018 (152)
82 ILLUMINA ss3636564096 Oct 12, 2018 (152)
83 ILLUMINA ss3640575621 Oct 12, 2018 (152)
84 ILLUMINA ss3644800613 Oct 12, 2018 (152)
85 URBANLAB ss3651181371 Oct 12, 2018 (152)
86 ILLUMINA ss3652650671 Oct 12, 2018 (152)
87 ILLUMINA ss3652650672 Oct 12, 2018 (152)
88 ILLUMINA ss3652650673 Oct 12, 2018 (152)
89 ILLUMINA ss3654006936 Oct 12, 2018 (152)
90 EGCUT_WGS ss3685812737 Jul 13, 2019 (153)
91 EVA_DECODE ss3708217661 Jul 13, 2019 (153)
92 ILLUMINA ss3725969441 Jul 13, 2019 (153)
93 ACPOP ss3743941858 Jul 13, 2019 (153)
94 ILLUMINA ss3744502892 Jul 13, 2019 (153)
95 ILLUMINA ss3745168165 Jul 13, 2019 (153)
96 EVA ss3759393532 Jul 13, 2019 (153)
97 PAGE_CC ss3772092094 Jul 13, 2019 (153)
98 ILLUMINA ss3772664063 Jul 13, 2019 (153)
99 KHV_HUMAN_GENOMES ss3822556198 Jul 13, 2019 (153)
100 EVA ss3835996633 Apr 27, 2020 (154)
101 EVA ss3841626594 Apr 27, 2020 (154)
102 EVA ss3847141673 Apr 27, 2020 (154)
103 SGDP_PRJ ss3890563811 Apr 27, 2020 (154)
104 KRGDB ss3940962556 Apr 27, 2020 (154)
105 1000Genomes NC_000022.10 - 37591318 Oct 12, 2018 (152)
106 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 37591318 Oct 12, 2018 (152)
107 Chileans NC_000022.10 - 37591318 Apr 27, 2020 (154)
108 Genetic variation in the Estonian population NC_000022.10 - 37591318 Oct 12, 2018 (152)
109 The Danish reference pan genome NC_000022.10 - 37591318 Apr 27, 2020 (154)
110 gnomAD - Genomes NC_000022.10 - 37591318 Jul 13, 2019 (153)
111 Genome of the Netherlands Release 5 NC_000022.10 - 37591318 Apr 27, 2020 (154)
112 HapMap NC_000022.11 - 37195278 Apr 27, 2020 (154)
113 KOREAN population from KRGDB NC_000022.10 - 37591318 Apr 27, 2020 (154)
114 Northern Sweden NC_000022.10 - 37591318 Jul 13, 2019 (153)
115 The PAGE Study NC_000022.11 - 37195278 Jul 13, 2019 (153)
116 Qatari NC_000022.10 - 37591318 Apr 27, 2020 (154)
117 SGDP_PRJ NC_000022.10 - 37591318 Apr 27, 2020 (154)
118 Siberian NC_000022.10 - 37591318 Apr 27, 2020 (154)
119 TopMed NC_000022.11 - 37195278 Oct 12, 2018 (152)
120 UK 10K study - Twins NC_000022.10 - 37591318 Oct 12, 2018 (152)
121 A Vietnamese Genetic Variation Database NC_000022.10 - 37591318 Jul 13, 2019 (153)
122 dbGaP Population Frequency Project NC_000022.11 - 37195278 Apr 27, 2020 (154)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs855900 Oct 23, 2000 (87)
rs1292762 Oct 23, 2000 (87)
rs2858494 Aug 27, 2003 (117)
rs5750397 Mar 10, 2006 (126)
rs9610666 Feb 27, 2004 (120)
rs17750708 Oct 07, 2004 (123)
rs57001107 Feb 26, 2009 (130)
rs58054929 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78253798, ss81374188, ss83050777 NC_000022.8:35915817:G:A NC_000022.11:37195277:G:A (self)
ss66247957, ss76393338, ss112648145, ss114212387, ss117405776, ss167949173, ss169259117, ss171979225, ss173461391, ss204089947, ss208827298, ss283638296, ss287570450, ss292762222, ss1699430473, ss1713741905, ss2094923669, ss2635112202 NC_000022.9:35921263:G:A NC_000022.11:37195277:G:A (self)
80749826, 44668251, 271511, 31550985, 5921222, 220258578, 19904564, 48139950, 17226723, 20968817, 42580791, 11371249, 44668251, 9854525, ss228683495, ss238072117, ss244189373, ss481341726, ss491571364, ss566645866, ss662575577, ss780683297, ss783356687, ss995360334, ss1082664774, ss1367196558, ss1429259210, ss1579756283, ss1640012001, ss1683006034, ss1752421245, ss1809792709, ss1917955733, ss1938926895, ss1946590942, ss1959980252, ss1969274409, ss2030235684, ss2095123254, ss2095123255, ss2158854895, ss2414359368, ss2629615148, ss2633879556, ss2633879557, ss2704606878, ss2974471334, ss2985238838, ss2985855252, ss3019317258, ss3022187064, ss3352841909, ss3628536539, ss3634868317, ss3636564096, ss3640575621, ss3644800613, ss3652650671, ss3652650672, ss3652650673, ss3654006936, ss3685812737, ss3743941858, ss3744502892, ss3745168165, ss3759393532, ss3772664063, ss3835996633, ss3841626594, ss3890563811, ss3940962556 NC_000022.10:37591317:G:A NC_000022.11:37195277:G:A (self)
2257685, 1313563, 240235608, 833861724, ss2247394955, ss3028955134, ss3377375752, ss3651181371, ss3708217661, ss3725969441, ss3772092094, ss3822556198, ss3847141673 NC_000022.11:37195277:G:A NC_000022.11:37195277:G:A (self)
ss11004773, ss13359319 NT_011520.9:16900371:G:A NC_000022.11:37195277:G:A (self)
ss297067, ss1244481, ss2048836, ss4046893, ss7997626, ss24601554, ss44295462, ss65825378, ss69272697, ss81411192, ss96125470, ss103863563, ss143438470, ss157182232, ss160531814 NT_011520.12:16981886:G:A NC_000022.11:37195277:G:A (self)
48139950, ss3940962556 NC_000022.10:37591317:G:T NC_000022.11:37195277:G:T
Help

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

17 citations for rs229541
PMID Title Author Year Journal
18978792 Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Cooper JD et al. 2008 Nature genetics
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease. Smyth DJ et al. 2008 The New England journal of medicine
19168599 Type 1 diabetes in the BB rat: a polygenic disease. Wallis RH et al. 2009 Diabetes
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
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Hindorff LA et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
19966805 The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes. Wallace C et al. 2010 Nature genetics
20203524 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. Pierce BL et al. 2010 Human heredity
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
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
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20854658 Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease. Eyre S et al. 2010 Arthritis research & therapy
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
21980299 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP et al. 2011 PLoS genetics
22069270 Genetic association analyses of atopic illness and proinflammatory cytokine genes with type 1 diabetes. Saleh NM et al. 2011 Diabetes/metabolism research and reviews
24367383 Evidence of stage- and age-related heterogeneity of non-HLA SNPs and risk of islet autoimmunity and type 1 diabetes: the diabetes autoimmunity study in the young. Frederiksen BN et al. 2013 Clinical & developmental immunology
26485223 Genetic Determinants of Enterovirus Infections: Polymorphisms in Type 1 Diabetes and Innate Immune Genes in the MIDIA Study. Witsø E et al. 2015 Viral immunology
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
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