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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.

rs4788084

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr16:28528527 (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
T=0.349500 (43886/125568, TOPMED)
T=0.392584 (44603/113614, ALFA Project)
T=0.31636 (24896/78696, PAGE_STUDY) (+ 16 more)
T=0.38021 (11884/31256, GnomAD)
T=0.2997 (1501/5008, 1000G)
T=0.4944 (2215/4480, Estonian)
T=0.4128 (1591/3854, ALSPAC)
T=0.4204 (1559/3708, TWINSUK)
T=0.2294 (672/2930, KOREAN)
T=0.3690 (769/2084, HGDP_Stanford)
T=0.2866 (540/1884, HapMap)
T=0.2254 (413/1832, Korea1K)
T=0.403 (402/998, GoNL)
T=0.462 (277/600, NorthernSweden)
C=0.291 (95/326, SGDP_PRJ)
T=0.236 (51/216, Qatari)
T=0.236 (51/216, Vietnamese)
C=0.45 (18/40, GENOME_DK)
C=0.40 (16/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IL27 : 2KB Upstream Variant
Publications
22 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 16 NC_000016.10:g.28528527C>T
GRCh37.p13 chr 16 NC_000016.9:g.28539848C>T
Gene: IL27, interleukin 27 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
IL27 transcript NM_145659.3:c. N/A N/A
IL27 transcript variant X1 XM_011545780.2:c. N/A 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 113614 C=0.607416 T=0.392584
European Sub 97886 C=0.59224 T=0.40776
African Sub 4244 C=0.7476 T=0.2524
African Others Sub 126 C=0.810 T=0.190
African American Sub 4118 C=0.7458 T=0.2542
Asian Sub 182 C=0.753 T=0.247
East Asian Sub 144 C=0.764 T=0.236
Other Asian Sub 38 C=0.71 T=0.29
Latin American 1 Sub 24 C=0.58 T=0.42
Latin American 2 Sub 92 C=0.54 T=0.46
South Asian Sub 4850 C=0.7546 T=0.2454
Other Sub 6336 C=0.6321 T=0.3679


Help

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

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.650500 T=0.349500
ALFA Total Global 113614 C=0.607416 T=0.392584
ALFA European Sub 97886 C=0.59224 T=0.40776
ALFA Other Sub 6336 C=0.6321 T=0.3679
ALFA South Asian Sub 4850 C=0.7546 T=0.2454
ALFA African Sub 4244 C=0.7476 T=0.2524
ALFA Asian Sub 182 C=0.753 T=0.247
ALFA Latin American 2 Sub 92 C=0.54 T=0.46
ALFA Latin American 1 Sub 24 C=0.58 T=0.42
The PAGE Study Global Study-wide 78696 C=0.68364 T=0.31636
The PAGE Study AfricanAmerican Sub 32512 C=0.75120 T=0.24880
The PAGE Study Mexican Sub 10808 C=0.53599 T=0.46401
The PAGE Study Asian Sub 8318 C=0.7624 T=0.2376
The PAGE Study PuertoRican Sub 7918 C=0.6534 T=0.3466
The PAGE Study NativeHawaiian Sub 4534 C=0.6716 T=0.3284
The PAGE Study Cuban Sub 4230 C=0.6719 T=0.3281
The PAGE Study Dominican Sub 3828 C=0.6816 T=0.3184
The PAGE Study CentralAmerican Sub 2450 C=0.5241 T=0.4759
The PAGE Study SouthAmerican Sub 1982 C=0.4420 T=0.5580
The PAGE Study NativeAmerican Sub 1260 C=0.5810 T=0.4190
The PAGE Study SouthAsian Sub 856 C=0.794 T=0.206
gnomAD - Genomes Global Study-wide 31256 C=0.61979 T=0.38021
gnomAD - Genomes European Sub 18798 C=0.55149 T=0.44851
gnomAD - Genomes African Sub 8692 C=0.7621 T=0.2379
gnomAD - Genomes East Asian Sub 1544 C=0.7267 T=0.2733
gnomAD - Genomes Other Sub 1086 C=0.5709 T=0.4291
gnomAD - Genomes American Sub 846 C=0.526 T=0.474
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.669 T=0.331
1000Genomes Global Study-wide 5008 C=0.7003 T=0.2997
1000Genomes African Sub 1322 C=0.7731 T=0.2269
1000Genomes East Asian Sub 1008 C=0.7143 T=0.2857
1000Genomes Europe Sub 1006 C=0.6461 T=0.3539
1000Genomes South Asian Sub 978 C=0.778 T=0.222
1000Genomes American Sub 694 C=0.510 T=0.490
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5056 T=0.4944
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5872 T=0.4128
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5796 T=0.4204
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7706 T=0.2294
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.6310 T=0.3690
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.677 T=0.323
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.720 T=0.280
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.774 T=0.226
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.616 T=0.384
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.781 T=0.219
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.148 T=0.852
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.14 T=0.86
HapMap Global Study-wide 1884 C=0.7134 T=0.2866
HapMap American Sub 766 C=0.658 T=0.342
HapMap African Sub 690 C=0.759 T=0.241
HapMap Asian Sub 252 C=0.778 T=0.222
HapMap Europe Sub 176 C=0.682 T=0.318
Korean Genome Project KOREAN Study-wide 1832 C=0.7746 T=0.2254
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.597 T=0.403
Northern Sweden ACPOP Study-wide 600 C=0.538 T=0.462
SGDP_PRJ Global Study-wide 326 C=0.291 T=0.709
Qatari Global Study-wide 216 C=0.764 T=0.236
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.764 T=0.236
The Danish reference pan genome Danish Study-wide 40 C=0.45 T=0.55
Siberian Global Study-wide 40 C=0.40 T=0.60
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 16 NC_000016.10:g.28528527= NC_000016.10:g.28528527C>T
GRCh37.p13 chr 16 NC_000016.9:g.28539848= NC_000016.9:g.28539848C>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

99 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6607261 Feb 20, 2003 (111)
2 PERLEGEN ss46552914 Mar 15, 2006 (126)
3 ILLUMINA ss66843381 Dec 02, 2006 (127)
4 ILLUMINA ss67376679 Dec 02, 2006 (127)
5 ILLUMINA ss67756757 Dec 02, 2006 (127)
6 ILLUMINA ss70824985 May 25, 2008 (130)
7 ILLUMINA ss71406994 May 18, 2007 (127)
8 ILLUMINA ss75905081 Dec 07, 2007 (129)
9 ILLUMINA ss79195337 Dec 15, 2007 (130)
10 KRIBB_YJKIM ss84353109 Dec 15, 2007 (130)
11 BCMHGSC_JDW ss90361401 Mar 24, 2008 (129)
12 BGI ss106468520 Feb 05, 2009 (130)
13 1000GENOMES ss109293617 Jan 23, 2009 (130)
14 ILLUMINA ss122388174 Dec 01, 2009 (131)
15 ENSEMBL ss136653720 Dec 01, 2009 (131)
16 ILLUMINA ss154317359 Dec 01, 2009 (131)
17 ILLUMINA ss159494040 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss168099493 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss171160133 Jul 04, 2010 (132)
20 ILLUMINA ss171917598 Jul 04, 2010 (132)
21 ILLUMINA ss173813414 Jul 04, 2010 (132)
22 BUSHMAN ss201600521 Jul 04, 2010 (132)
23 1000GENOMES ss227211294 Jul 14, 2010 (132)
24 1000GENOMES ss237002312 Jul 15, 2010 (132)
25 1000GENOMES ss243346780 Jul 15, 2010 (132)
26 BL ss255613137 May 09, 2011 (134)
27 GMI ss282489548 May 04, 2012 (137)
28 GMI ss287057389 Apr 25, 2013 (138)
29 PJP ss291943271 May 09, 2011 (134)
30 ILLUMINA ss410815782 Sep 17, 2011 (135)
31 EXOME_CHIP ss491506649 May 04, 2012 (137)
32 ILLUMINA ss537274322 Sep 08, 2015 (146)
33 TISHKOFF ss564864446 Apr 25, 2013 (138)
34 SSMP ss660616536 Apr 25, 2013 (138)
35 ILLUMINA ss780685352 Sep 08, 2015 (146)
36 ILLUMINA ss783358838 Sep 08, 2015 (146)
37 ILLUMINA ss825525855 Apr 01, 2015 (144)
38 ILLUMINA ss833005425 Jul 13, 2019 (153)
39 EVA-GONL ss992420067 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1080583237 Aug 21, 2014 (142)
41 1000GENOMES ss1355920266 Aug 21, 2014 (142)
42 DDI ss1427820389 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1577891180 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1634283117 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1677277150 Apr 01, 2015 (144)
46 EVA_DECODE ss1696454742 Apr 01, 2015 (144)
47 EVA_SVP ss1713535371 Apr 01, 2015 (144)
48 ILLUMINA ss1917906338 Feb 12, 2016 (147)
49 WEILL_CORNELL_DGM ss1935843934 Feb 12, 2016 (147)
50 ILLUMINA ss1959671672 Feb 12, 2016 (147)
51 GENOMED ss1968249397 Jul 19, 2016 (147)
52 JJLAB ss2028710284 Sep 14, 2016 (149)
53 ILLUMINA ss2094889063 Dec 20, 2016 (150)
54 ILLUMINA ss2095065259 Dec 20, 2016 (150)
55 ILLUMINA ss2095065260 Dec 20, 2016 (150)
56 USC_VALOUEV ss2157122887 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2211647930 Dec 20, 2016 (150)
58 TOPMED ss2376403216 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2628847871 Nov 08, 2017 (151)
60 ILLUMINA ss2633310628 Nov 08, 2017 (151)
61 ILLUMINA ss2633310629 Nov 08, 2017 (151)
62 GRF ss2701628979 Nov 08, 2017 (151)
63 GNOMAD ss2941913654 Nov 08, 2017 (151)
64 AFFY ss2985065077 Nov 08, 2017 (151)
65 AFFY ss2985702847 Nov 08, 2017 (151)
66 SWEGEN ss3014306017 Nov 08, 2017 (151)
67 ILLUMINA ss3021697889 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3028178855 Nov 08, 2017 (151)
69 TOPMED ss3243751823 Nov 08, 2017 (151)
70 CSHL ss3351402757 Nov 08, 2017 (151)
71 ILLUMINA ss3627508286 Oct 12, 2018 (152)
72 ILLUMINA ss3627508287 Oct 12, 2018 (152)
73 ILLUMINA ss3634638944 Oct 12, 2018 (152)
74 ILLUMINA ss3638121224 Oct 12, 2018 (152)
75 ILLUMINA ss3639072707 Oct 12, 2018 (152)
76 ILLUMINA ss3639542421 Oct 12, 2018 (152)
77 ILLUMINA ss3640346263 Oct 12, 2018 (152)
78 ILLUMINA ss3641070598 Oct 12, 2018 (152)
79 ILLUMINA ss3641366112 Oct 12, 2018 (152)
80 ILLUMINA ss3643102613 Oct 12, 2018 (152)
81 ILLUMINA ss3644666037 Oct 12, 2018 (152)
82 ILLUMINA ss3652104772 Oct 12, 2018 (152)
83 ILLUMINA ss3652104773 Oct 12, 2018 (152)
84 ILLUMINA ss3652104774 Oct 12, 2018 (152)
85 ILLUMINA ss3653837648 Oct 12, 2018 (152)
86 EGCUT_WGS ss3681392099 Jul 13, 2019 (153)
87 EVA_DECODE ss3699109690 Jul 13, 2019 (153)
88 ILLUMINA ss3725555917 Jul 13, 2019 (153)
89 ACPOP ss3741454690 Jul 13, 2019 (153)
90 ILLUMINA ss3744430639 Jul 13, 2019 (153)
91 ILLUMINA ss3744939377 Jul 13, 2019 (153)
92 EVA ss3753848156 Jul 13, 2019 (153)
93 PAGE_CC ss3771875108 Jul 13, 2019 (153)
94 KHV_HUMAN_GENOMES ss3819142130 Jul 13, 2019 (153)
95 EVA ss3834541765 Apr 27, 2020 (154)
96 HGDP ss3847543649 Apr 27, 2020 (154)
97 SGDP_PRJ ss3884251922 Apr 27, 2020 (154)
98 KRGDB ss3933593578 Apr 27, 2020 (154)
99 KOGIC ss3977370026 Apr 27, 2020 (154)
100 1000Genomes NC_000016.9 - 28539848 Oct 12, 2018 (152)
101 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 28539848 Oct 12, 2018 (152)
102 Genetic variation in the Estonian population NC_000016.9 - 28539848 Oct 12, 2018 (152)
103 The Danish reference pan genome NC_000016.9 - 28539848 Apr 27, 2020 (154)
104 gnomAD - Genomes NC_000016.9 - 28539848 Jul 13, 2019 (153)
105 Genome of the Netherlands Release 5 NC_000016.9 - 28539848 Apr 27, 2020 (154)
106 HGDP-CEPH-db Supplement 1 NC_000016.8 - 28447349 Apr 27, 2020 (154)
107 HapMap NC_000016.10 - 28528527 Apr 27, 2020 (154)
108 KOREAN population from KRGDB NC_000016.9 - 28539848 Apr 27, 2020 (154)
109 Korean Genome Project NC_000016.10 - 28528527 Apr 27, 2020 (154)
110 Northern Sweden NC_000016.9 - 28539848 Jul 13, 2019 (153)
111 The PAGE Study NC_000016.10 - 28528527 Jul 13, 2019 (153)
112 Qatari NC_000016.9 - 28539848 Apr 27, 2020 (154)
113 SGDP_PRJ NC_000016.9 - 28539848 Apr 27, 2020 (154)
114 Siberian NC_000016.9 - 28539848 Apr 27, 2020 (154)
115 TopMed NC_000016.10 - 28528527 Oct 12, 2018 (152)
116 UK 10K study - Twins NC_000016.9 - 28539848 Oct 12, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000016.9 - 28539848 Jul 13, 2019 (153)
118 dbGaP Population Frequency Project NC_000016.10 - 28528527 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)
rs59280146 May 25, 2008 (130)
rs386595433 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
221541, ss90361401, ss109293617, ss168099493, ss171160133, ss201600521, ss255613137, ss282489548, ss287057389, ss291943271, ss825525855, ss1696454742, ss1713535371, ss2094889063, ss3639072707, ss3639542421, ss3643102613, ss3847543649 NC_000016.8:28447348:C:T NC_000016.10:28528526:C:T (self)
69073215, 38345684, 27130347, 4104562, 188479538, 17103807, 40770972, 14739555, 17885856, 36268902, 9639241, 38345684, 8514739, ss227211294, ss237002312, ss243346780, ss491506649, ss537274322, ss564864446, ss660616536, ss780685352, ss783358838, ss833005425, ss992420067, ss1080583237, ss1355920266, ss1427820389, ss1577891180, ss1634283117, ss1677277150, ss1917906338, ss1935843934, ss1959671672, ss1968249397, ss2028710284, ss2095065259, ss2095065260, ss2157122887, ss2376403216, ss2628847871, ss2633310628, ss2633310629, ss2701628979, ss2941913654, ss2985065077, ss2985702847, ss3014306017, ss3021697889, ss3351402757, ss3627508286, ss3627508287, ss3634638944, ss3638121224, ss3640346263, ss3641070598, ss3641366112, ss3644666037, ss3652104772, ss3652104773, ss3652104774, ss3653837648, ss3681392099, ss3741454690, ss3744430639, ss3744939377, ss3753848156, ss3834541765, ss3884251922, ss3933593578 NC_000016.9:28539847:C:T NC_000016.10:28528526:C:T (self)
1372660, 33748027, 1096577, 142360211, 210347421, ss2211647930, ss3028178855, ss3243751823, ss3699109690, ss3725555917, ss3771875108, ss3819142130, ss3977370026 NC_000016.10:28528526:C:T NC_000016.10:28528526:C:T (self)
ss6607261, ss46552914, ss66843381, ss67376679, ss67756757, ss70824985, ss71406994, ss75905081, ss79195337, ss84353109, ss106468520, ss122388174, ss136653720, ss154317359, ss159494040, ss171917598, ss173813414, ss410815782 NT_010393.16:28479847:C:T NC_000016.10:28528526: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.

22 citations for rs4788084
PMID Title Author Year Journal
19430480 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Barrett JC et al. 2009 Nature genetics
19915574 Common variants at five new loci associated with early-onset inflammatory bowel disease. Imielinski M et al. 2009 Nature genetics
20176734 Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Wang K et al. 2010 Human molecular genetics
20453842 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. Stahl EA et al. 2010 Nature genetics
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
20662065 Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. Clancy RM et al. 2010 Arthritis and rheumatism
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20885991 Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies. Carey C et al. 2010 Expert opinion on medical diagnostics
21270831 Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population. Reddy MV et al. 2011 Genes and immunity
21441570 Genome-wide meta-analysis for severe diabetic retinopathy. Grassi MA et al. 2011 Human molecular genetics
21682861 Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving. Cagliani R et al. 2011 BMC evolutionary biology
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
22065918 CFH 184G as a genetic risk marker for anterior uveitis in Chinese females. Yang MM et al. 2011 Molecular vision
22278338 Confirmation of novel type 1 diabetes risk loci in families. Cooper JD et al. 2012 Diabetologia
22508400 Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. Chung SA et al. 2012 Arthritis and rheumatism
22876110 Complement factor H and interleukin gene polymorphisms in patients with non-infectious intermediate and posterior uveitis. Yang MM et al. 2012 Molecular vision
26833246 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk. Lu Y et al. 2016 Nature communications
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
31754094 Evidence that genes involved in hedgehog signaling are associated with both bipolar disorder and high BMI. Pisanu C et al. 2019 Translational psychiatry
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