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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.

rs7020673

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr9:4291747 (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
C=0.384095 (48230/125568, TOPMED)
C=0.39100 (12240/31304, GnomAD)
C=0.3582 (1794/5008, 1000G) (+ 13 more)
C=0.4705 (2108/4480, Estonian)
G=0.4912 (1893/3854, ALSPAC)
C=0.4970 (1843/3708, TWINSUK)
G=0.4543 (1331/2930, KOREAN)
C=0.4799 (1050/2188, ALFA Project)
C=0.3123 (589/1886, HapMap)
C=0.481 (480/998, GoNL)
G=0.442 (265/600, NorthernSweden)
C=0.271 (121/446, SGDP_PRJ)
C=0.333 (72/216, Qatari)
C=0.495 (106/214, Vietnamese)
C=0.33 (14/42, Siberian)
G=0.42 (17/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GLIS3 : Intron Variant
Publications
16 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 9 NC_000009.12:g.4291747C>A
GRCh38.p12 chr 9 NC_000009.12:g.4291747C>G
GRCh38.p12 chr 9 NC_000009.12:g.4291747C>T
GRCh37.p13 chr 9 NC_000009.11:g.4291747C>A
GRCh37.p13 chr 9 NC_000009.11:g.4291747C>G
GRCh37.p13 chr 9 NC_000009.11:g.4291747C>T
GLIS3 RefSeqGene NG_011782.2:g.13289G>T
GLIS3 RefSeqGene NG_011782.2:g.13289G>C
GLIS3 RefSeqGene NG_011782.2:g.13289G>A
GLIS3 RefSeqGene NG_011782.1:g.13289G>T
GLIS3 RefSeqGene NG_011782.1:g.13289G>C
GLIS3 RefSeqGene NG_011782.1:g.13289G>A
Gene: GLIS3, GLIS family zinc finger 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GLIS3 transcript variant 1 NM_001042413.2:c.-98-5224…

NM_001042413.2:c.-98-5224G>T

N/A Intron Variant
GLIS3 transcript variant 2 NM_152629.3:c. N/A Genic Upstream Transcript Variant
GLIS3 transcript variant X4 XM_005251386.4:c.-78+7674…

XM_005251386.4:c.-78+7674G>T

N/A Intron Variant
GLIS3 transcript variant X7 XM_005251387.4:c.-556-522…

XM_005251387.4:c.-556-5224G>T

N/A Intron Variant
GLIS3 transcript variant X9 XM_005251388.4:c.-71+7674…

XM_005251388.4:c.-71+7674G>T

N/A Intron Variant
GLIS3 transcript variant X12 XM_005251389.5:c.-98-5224…

XM_005251389.5:c.-98-5224G>T

N/A Intron Variant
GLIS3 transcript variant X13 XM_006716731.3:c.-98-5224…

XM_006716731.3:c.-98-5224G>T

N/A Intron Variant
GLIS3 transcript variant X1 XM_011517763.2:c.-98-5224…

XM_011517763.2:c.-98-5224G>T

N/A Intron Variant
GLIS3 transcript variant X2 XM_011517764.2:c.-98-5224…

XM_011517764.2:c.-98-5224G>T

N/A Intron Variant
GLIS3 transcript variant X3 XM_011517765.2:c.-98-5224…

XM_011517765.2:c.-98-5224G>T

N/A Intron Variant
GLIS3 transcript variant X8 XM_011517767.3:c.-556-522…

XM_011517767.3:c.-556-5224G>T

N/A Intron Variant
GLIS3 transcript variant X10 XM_011517769.2:c.-98-5224…

XM_011517769.2:c.-98-5224G>T

N/A Intron Variant
GLIS3 transcript variant X5 XM_011517766.2:c. N/A Genic Upstream Transcript Variant
GLIS3 transcript variant X6 XM_017014361.1:c. N/A Genic Upstream Transcript Variant
GLIS3 transcript variant X11 XR_929206.2:n. N/A Intron 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 2188 C=0.4799 G=0.5201
European Sub 2072 C=0.4928 G=0.5072
African Sub 82 C=0.17 G=0.83
African Others Sub 6 C=0.0 G=1.0
African American Sub 76 C=0.18 G=0.82
Asian Sub 4 C=0.0 G=1.0
East Asian Sub 2 C=0.0 G=1.0
Other Asian Sub 2 C=0.0 G=1.0
Latin American 1 Sub 0 C=0 G=0
Latin American 2 Sub 0 C=0 G=0
South Asian Sub 4 C=0.5 G=0.5
Other Sub 26 C=0.50 G=0.50


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=0.384095 G=0.615905
gnomAD - Genomes Global Study-wide 31304 C=0.39100 G=0.60900
gnomAD - Genomes European Sub 18836 C=0.48328 G=0.51672
gnomAD - Genomes African Sub 8706 C=0.1554 G=0.8446
gnomAD - Genomes East Asian Sub 1552 C=0.5238 G=0.4762
gnomAD - Genomes Other Sub 1080 C=0.4759 G=0.5241
gnomAD - Genomes American Sub 840 C=0.386 G=0.614
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.459 G=0.541
1000Genomes Global Study-wide 5008 C=0.3582 G=0.6418
1000Genomes African Sub 1322 C=0.1097 G=0.8903
1000Genomes East Asian Sub 1008 C=0.4960 G=0.5040
1000Genomes Europe Sub 1006 C=0.4652 G=0.5348
1000Genomes South Asian Sub 978 C=0.400 G=0.600
1000Genomes American Sub 694 C=0.418 G=0.582
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4705 G=0.5295
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5088 G=0.4912
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.4970 G=0.5030
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5457 A=0.0000, G=0.4543, T=0.0000
ALFA Total Global 2188 C=0.4799 G=0.5201
ALFA European Sub 2072 C=0.4928 G=0.5072
ALFA African Sub 82 C=0.17 G=0.83
ALFA Other Sub 26 C=0.50 G=0.50
ALFA South Asian Sub 4 C=0.5 G=0.5
ALFA Asian Sub 4 C=0.0 G=1.0
ALFA Latin American 1 Sub 0 C=0 G=0
ALFA Latin American 2 Sub 0 C=0 G=0
HapMap Global Study-wide 1886 C=0.3123 G=0.6877
HapMap American Sub 768 C=0.383 G=0.617
HapMap African Sub 688 C=0.148 G=0.852
HapMap Asian Sub 254 C=0.445 G=0.555
HapMap Europe Sub 176 C=0.455 G=0.545
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.481 G=0.519
Northern Sweden ACPOP Study-wide 600 C=0.558 G=0.442
SGDP_PRJ Global Study-wide 446 C=0.271 G=0.729
Qatari Global Study-wide 216 C=0.333 G=0.667
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.495 G=0.505
Siberian Global Study-wide 42 C=0.33 G=0.67
The Danish reference pan genome Danish Study-wide 40 C=0.57 G=0.42
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 9 NC_000009.12:g.4291747= NC_000009.12:g.4291747C>A NC_000009.12:g.4291747C>G NC_000009.12:g.4291747C>T
GRCh37.p13 chr 9 NC_000009.11:g.4291747= NC_000009.11:g.4291747C>A NC_000009.11:g.4291747C>G NC_000009.11:g.4291747C>T
GLIS3 RefSeqGene NG_011782.2:g.13289= NG_011782.2:g.13289G>T NG_011782.2:g.13289G>C NG_011782.2:g.13289G>A
GLIS3 RefSeqGene NG_011782.1:g.13289= NG_011782.1:g.13289G>T NG_011782.1:g.13289G>C NG_011782.1:g.13289G>A
GLIS3 transcript variant 1 NM_001042413.1:c.-98-5224= NM_001042413.1:c.-98-5224G>T NM_001042413.1:c.-98-5224G>C NM_001042413.1:c.-98-5224G>A
GLIS3 transcript variant 1 NM_001042413.2:c.-98-5224= NM_001042413.2:c.-98-5224G>T NM_001042413.2:c.-98-5224G>C NM_001042413.2:c.-98-5224G>A
GLIS3 transcript variant X1 XM_005251386.1:c.-78+7674= XM_005251386.1:c.-78+7674G>T XM_005251386.1:c.-78+7674G>C XM_005251386.1:c.-78+7674G>A
GLIS3 transcript variant X4 XM_005251386.4:c.-78+7674= XM_005251386.4:c.-78+7674G>T XM_005251386.4:c.-78+7674G>C XM_005251386.4:c.-78+7674G>A
GLIS3 transcript variant X2 XM_005251387.1:c.-556-5224= XM_005251387.1:c.-556-5224G>T XM_005251387.1:c.-556-5224G>C XM_005251387.1:c.-556-5224G>A
GLIS3 transcript variant X7 XM_005251387.4:c.-556-5224= XM_005251387.4:c.-556-5224G>T XM_005251387.4:c.-556-5224G>C XM_005251387.4:c.-556-5224G>A
GLIS3 transcript variant X3 XM_005251388.1:c.-71+7674= XM_005251388.1:c.-71+7674G>T XM_005251388.1:c.-71+7674G>C XM_005251388.1:c.-71+7674G>A
GLIS3 transcript variant X9 XM_005251388.4:c.-71+7674= XM_005251388.4:c.-71+7674G>T XM_005251388.4:c.-71+7674G>C XM_005251388.4:c.-71+7674G>A
GLIS3 transcript variant X4 XM_005251389.1:c.-98-5224= XM_005251389.1:c.-98-5224G>T XM_005251389.1:c.-98-5224G>C XM_005251389.1:c.-98-5224G>A
GLIS3 transcript variant X12 XM_005251389.5:c.-98-5224= XM_005251389.5:c.-98-5224G>T XM_005251389.5:c.-98-5224G>C XM_005251389.5:c.-98-5224G>A
GLIS3 transcript variant X13 XM_006716731.3:c.-98-5224= XM_006716731.3:c.-98-5224G>T XM_006716731.3:c.-98-5224G>C XM_006716731.3:c.-98-5224G>A
GLIS3 transcript variant X1 XM_011517763.2:c.-98-5224= XM_011517763.2:c.-98-5224G>T XM_011517763.2:c.-98-5224G>C XM_011517763.2:c.-98-5224G>A
GLIS3 transcript variant X2 XM_011517764.2:c.-98-5224= XM_011517764.2:c.-98-5224G>T XM_011517764.2:c.-98-5224G>C XM_011517764.2:c.-98-5224G>A
GLIS3 transcript variant X3 XM_011517765.2:c.-98-5224= XM_011517765.2:c.-98-5224G>T XM_011517765.2:c.-98-5224G>C XM_011517765.2:c.-98-5224G>A
GLIS3 transcript variant X8 XM_011517767.3:c.-556-5224= XM_011517767.3:c.-556-5224G>T XM_011517767.3:c.-556-5224G>C XM_011517767.3:c.-556-5224G>A
GLIS3 transcript variant X10 XM_011517769.2:c.-98-5224= XM_011517769.2:c.-98-5224G>T XM_011517769.2:c.-98-5224G>C XM_011517769.2:c.-98-5224G>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#.

85 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10494213 Jul 11, 2003 (116)
2 WI_SSAHASNP ss14359531 Dec 05, 2003 (119)
3 SC_SNP ss15701353 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss18004984 Feb 27, 2004 (120)
5 SSAHASNP ss22808939 Apr 05, 2004 (121)
6 PERLEGEN ss24686563 Sep 20, 2004 (123)
7 AFFY ss66237885 Dec 01, 2006 (127)
8 AFFY ss76383528 Dec 07, 2007 (129)
9 HGSV ss78433462 Dec 07, 2007 (129)
10 HGSV ss79051214 Dec 07, 2007 (129)
11 KRIBB_YJKIM ss82369456 Dec 03, 2013 (138)
12 HGSV ss83348368 Dec 16, 2007 (130)
13 BCMHGSC_JDW ss93999029 Mar 25, 2008 (129)
14 HUMANGENOME_JCVI ss97702077 Feb 06, 2009 (130)
15 1000GENOMES ss108538854 Jan 23, 2009 (130)
16 1000GENOMES ss114047874 Jan 25, 2009 (130)
17 ILLUMINA-UK ss115678082 Feb 14, 2009 (130)
18 ENSEMBL ss139789655 Dec 01, 2009 (131)
19 ENSEMBL ss143903296 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss163700423 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss164348208 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss166056823 Jul 04, 2010 (132)
23 AFFY ss173436931 Jul 04, 2010 (132)
24 BUSHMAN ss200014204 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss206773961 Jul 04, 2010 (132)
26 1000GENOMES ss224087078 Jul 14, 2010 (132)
27 1000GENOMES ss234701015 Jul 15, 2010 (132)
28 1000GENOMES ss241499673 Jul 15, 2010 (132)
29 BL ss254003677 May 09, 2011 (134)
30 GMI ss280077944 May 04, 2012 (137)
31 GMI ss285958436 Apr 25, 2013 (138)
32 PJP ss294275364 May 09, 2011 (134)
33 ILLUMINA ss410883194 Sep 17, 2011 (135)
34 EXOME_CHIP ss491419948 May 04, 2012 (137)
35 TISHKOFF ss561195357 Apr 25, 2013 (138)
36 SSMP ss655624737 Apr 25, 2013 (138)
37 EVA-GONL ss986244706 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1076059945 Aug 21, 2014 (142)
39 1000GENOMES ss1332641364 Aug 21, 2014 (142)
40 DDI ss1431730167 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1582960119 Apr 01, 2015 (144)
42 EVA_DECODE ss1595868688 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1622117906 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1665111939 Apr 01, 2015 (144)
45 EVA_SVP ss1713085791 Apr 01, 2015 (144)
46 HAMMER_LAB ss1805850303 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1929523548 Feb 12, 2016 (147)
48 GENOMED ss1971139178 Jul 19, 2016 (147)
49 JJLAB ss2025469056 Sep 14, 2016 (149)
50 ILLUMINA ss2094993246 Dec 20, 2016 (150)
51 ILLUMINA ss2095217573 Dec 20, 2016 (150)
52 ILLUMINA ss2095217574 Dec 20, 2016 (150)
53 USC_VALOUEV ss2153699352 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2308867170 Dec 20, 2016 (150)
55 TOPMED ss2478860726 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2627210506 Nov 08, 2017 (151)
57 GRF ss2709494624 Nov 08, 2017 (151)
58 GNOMAD ss2874706056 Nov 08, 2017 (151)
59 AFFY ss2985454387 Nov 08, 2017 (151)
60 AFFY ss2986098174 Nov 08, 2017 (151)
61 SWEGEN ss3004285972 Nov 08, 2017 (151)
62 ILLUMINA ss3022902986 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3026522842 Nov 08, 2017 (151)
64 CSHL ss3348493579 Nov 08, 2017 (151)
65 TOPMED ss3580360367 Nov 08, 2017 (151)
66 TOPMED ss3580360368 Nov 08, 2017 (151)
67 URBANLAB ss3649057012 Oct 12, 2018 (152)
68 ILLUMINA ss3653451589 Oct 12, 2018 (152)
69 ILLUMINA ss3653451590 Oct 12, 2018 (152)
70 ILLUMINA ss3654218355 Oct 12, 2018 (152)
71 EGCUT_WGS ss3672017926 Jul 13, 2019 (153)
72 EVA_DECODE ss3723356181 Jul 13, 2019 (153)
73 ILLUMINA ss3726588615 Jul 13, 2019 (153)
74 ACPOP ss3736255124 Jul 13, 2019 (153)
75 ILLUMINA ss3744585975 Jul 13, 2019 (153)
76 EVA ss3768836183 Jul 13, 2019 (153)
77 PACBIO ss3786330753 Jul 13, 2019 (153)
78 PACBIO ss3791558729 Jul 13, 2019 (153)
79 PACBIO ss3796440355 Jul 13, 2019 (153)
80 KHV_HUMAN_GENOMES ss3811996104 Jul 13, 2019 (153)
81 EVA ss3831504985 Apr 26, 2020 (154)
82 EVA ss3839265672 Apr 26, 2020 (154)
83 EVA ss3844727425 Apr 26, 2020 (154)
84 SGDP_PRJ ss3871390496 Apr 26, 2020 (154)
85 KRGDB ss3919019091 Apr 26, 2020 (154)
86 1000Genomes NC_000009.11 - 4291747 Oct 12, 2018 (152)
87 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 4291747 Oct 12, 2018 (152)
88 Genetic variation in the Estonian population NC_000009.11 - 4291747 Oct 12, 2018 (152)
89 The Danish reference pan genome NC_000009.11 - 4291747 Apr 26, 2020 (154)
90 gnomAD - Genomes NC_000009.11 - 4291747 Jul 13, 2019 (153)
91 Genome of the Netherlands Release 5 NC_000009.11 - 4291747 Apr 26, 2020 (154)
92 HapMap NC_000009.12 - 4291747 Apr 26, 2020 (154)
93 KOREAN population from KRGDB NC_000009.11 - 4291747 Apr 26, 2020 (154)
94 Northern Sweden NC_000009.11 - 4291747 Jul 13, 2019 (153)
95 Qatari NC_000009.11 - 4291747 Apr 26, 2020 (154)
96 SGDP_PRJ NC_000009.11 - 4291747 Apr 26, 2020 (154)
97 Siberian NC_000009.11 - 4291747 Apr 26, 2020 (154)
98 TopMed NC_000009.12 - 4291747 Oct 12, 2018 (152)
99 UK 10K study - Twins NC_000009.11 - 4291747 Oct 12, 2018 (152)
100 A Vietnamese Genetic Variation Database NC_000009.11 - 4291747 Jul 13, 2019 (153)
101 dbGaP Population Frequency Project NC_000009.12 - 4291747 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)
rs17660823 Oct 08, 2004 (123)
rs61567654 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
26196485, ss3919019091 NC_000009.11:4291746:C:A NC_000009.12:4291746:C:A
ss3580360367 NC_000009.12:4291746:C:A NC_000009.12:4291746:C:A (self)
ss78433462, ss79051214, ss83348368 NC_000009.9:4281746:C:G NC_000009.12:4291746:C:G (self)
ss66237885, ss76383528, ss93999029, ss108538854, ss114047874, ss115678082, ss163700423, ss164348208, ss166056823, ss173436931, ss200014204, ss206773961, ss254003677, ss280077944, ss285958436, ss294275364, ss410883194, ss1595868688, ss1713085791, ss2094993246 NC_000009.10:4281746:C:G NC_000009.12:4291746:C:G (self)
44862397, 24965049, 17756174, 9125056, 122609550, 11134030, 26196485, 9539989, 11565478, 23407476, 6215706, 24965049, 5542780, ss224087078, ss234701015, ss241499673, ss491419948, ss561195357, ss655624737, ss986244706, ss1076059945, ss1332641364, ss1431730167, ss1582960119, ss1622117906, ss1665111939, ss1805850303, ss1929523548, ss1971139178, ss2025469056, ss2095217573, ss2095217574, ss2153699352, ss2478860726, ss2627210506, ss2709494624, ss2874706056, ss2985454387, ss2986098174, ss3004285972, ss3022902986, ss3348493579, ss3653451589, ss3653451590, ss3654218355, ss3672017926, ss3736255124, ss3744585975, ss3768836183, ss3786330753, ss3791558729, ss3796440355, ss3831504985, ss3839265672, ss3871390496, ss3919019091 NC_000009.11:4291746:C:G NC_000009.12:4291746:C:G (self)
3763181, 404560802, 711705115, ss2308867170, ss3026522842, ss3580360368, ss3649057012, ss3723356181, ss3726588615, ss3811996104, ss3844727425 NC_000009.12:4291746:C:G NC_000009.12:4291746:C:G (self)
ss10494213 NT_008413.15:4281746:C:G NC_000009.12:4291746:C:G (self)
ss14359531, ss15701353, ss18004984, ss22808939 NT_008413.16:4281746:C:G NC_000009.12:4291746:C:G (self)
ss24686563, ss82369456, ss97702077, ss139789655, ss143903296 NT_008413.18:4281746:C:G NC_000009.12:4291746:C:G (self)
26196485, ss3919019091 NC_000009.11:4291746:C:T NC_000009.12:4291746:C:T
Help

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

16 citations for rs7020673
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
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
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
21873553 Genetic analysis of adult-onset autoimmune diabetes. Howson JM et al. 2011 Diabetes
21949744 Effects of 16 genetic variants on fasting glucose and type 2 diabetes in South Asians: ADCY5 and GLIS3 variants may predispose to type 2 diabetes. Rees SD et al. 2011 PloS one
22278338 Confirmation of novel type 1 diabetes risk loci in families. Cooper JD et al. 2012 Diabetologia
22315323 Effects of non-HLA gene polymorphisms on development of islet autoimmunity and type 1 diabetes in a population with high-risk HLA-DR,DQ genotypes. Steck AK et al. 2012 Diabetes
24719615 Genetic susceptibility to type 2 diabetes and obesity: follow-up of findings from genome-wide association studies. Basile KJ et al. 2014 International journal of endocrinology
24843659 Insights into the genetic basis of type 2 diabetes. Kato N et al. 2013 Journal of diabetes investigation
25904084 Genetic link of type 1 diabetes susceptibility loci with rheumatoid arthritis in Pakistani patients. Kiani AK et al. 2015 Immunogenetics
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
28597135 GLIS3 rs7020673 and rs10758593 polymorphisms interact in the susceptibility for type 1 diabetes mellitus. Duarte GCK et al. 2017 Acta diabetologica
28846454 GLIS3 and TYK2 Single Nucleotide Polymorphisms Are Not Associated with Dermatomyositis/Polymyositis in Chinese Han Population. Li L et al. 2017 Genetic testing and molecular biomarkers
31455420 Exploration of shared genetic susceptibility loci between type 1 diabetes and rheumatoid arthritis in the Pakistani population. Aslam MM et al. 2019 BMC research notes
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Select flank length:

Genomic regions, transcripts, and products
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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