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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.

rs3788013

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr21:42421219 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.446173 (56025/125568, TOPMED)
A=0.42045 (34858/82906, ALFA Project)
A=0.43706 (34392/78690, PAGE_STUDY) (+ 16 more)
A=0.42853 (13424/31326, GnomAD)
A=0.3964 (1985/5008, 1000G)
A=0.3754 (1682/4480, Estonian)
A=0.4315 (1663/3854, ALSPAC)
A=0.4393 (1629/3708, TWINSUK)
A=0.2973 (871/2930, KOREAN)
A=0.3767 (785/2084, HGDP_Stanford)
A=0.4264 (805/1888, HapMap)
A=0.2811 (515/1832, Korea1K)
A=0.424 (423/998, GoNL)
A=0.430 (258/600, NorthernSweden)
C=0.373 (109/292, SGDP_PRJ)
A=0.477 (103/216, Qatari)
A=0.333 (72/216, Vietnamese)
C=0.47 (19/40, GENOME_DK)
C=0.37 (11/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UBASH3A : Intron Variant
Publications
9 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 21 NC_000021.9:g.42421219C>A
GRCh37.p13 chr 21 NC_000021.8:g.43841328C>A
UBASH3A RefSeqGene NG_029750.2:g.22358C>A
UBASH3A RefSeqGene NG_029750.1:g.22358C>A
Gene: UBASH3A, ubiquitin associated and SH3 domain containing A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UBASH3A transcript variant 2 NM_001001895.3:c.932+2610…

NM_001001895.3:c.932+2610C>A

N/A Intron Variant
UBASH3A transcript variant 3 NM_001243467.2:c.932+2610…

NM_001243467.2:c.932+2610C>A

N/A Intron Variant
UBASH3A transcript variant 1 NM_018961.4:c.1046+2610C>A N/A Intron Variant
UBASH3A transcript variant X1 XM_006724013.3:c.989+2610…

XM_006724013.3:c.989+2610C>A

N/A Intron Variant
UBASH3A transcript variant X2 XM_011529605.3:c.1046+261…

XM_011529605.3:c.1046+2610C>A

N/A Intron Variant
UBASH3A transcript variant X3 XM_011529606.3:c.641+2610…

XM_011529606.3:c.641+2610C>A

N/A Intron Variant
UBASH3A transcript variant X4 XM_011529607.2:c.641+2610…

XM_011529607.2:c.641+2610C>A

N/A Intron Variant
UBASH3A transcript variant X6 XM_011529609.2:c.1046+261…

XM_011529609.2:c.1046+2610C>A

N/A Intron Variant
UBASH3A transcript variant X7 XM_011529610.2:c.230+2610…

XM_011529610.2:c.230+2610C>A

N/A Intron Variant
UBASH3A transcript variant X5 XR_244316.2: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 82906 C=0.57955 A=0.42045
European Sub 72288 C=0.57384 A=0.42616
African Sub 1560 C=0.4891 A=0.5109
African Others Sub 44 C=0.59 A=0.41
African American Sub 1516 C=0.4861 A=0.5139
Asian Sub 104 C=0.644 A=0.356
East Asian Sub 92 C=0.61 A=0.39
Other Asian Sub 12 C=0.92 A=0.08
Latin American 1 Sub 18 C=0.67 A=0.33
Latin American 2 Sub 70 C=0.74 A=0.26
South Asian Sub 4846 C=0.6859 A=0.3141
Other Sub 4020 C=0.5841 A=0.4159


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=0.553827 A=0.446173
ALFA Total Global 82906 C=0.57955 A=0.42045
ALFA European Sub 72288 C=0.57384 A=0.42616
ALFA South Asian Sub 4846 C=0.6859 A=0.3141
ALFA Other Sub 4020 C=0.5841 A=0.4159
ALFA African Sub 1560 C=0.4891 A=0.5109
ALFA Asian Sub 104 C=0.644 A=0.356
ALFA Latin American 2 Sub 70 C=0.74 A=0.26
ALFA Latin American 1 Sub 18 C=0.67 A=0.33
The PAGE Study Global Study-wide 78690 C=0.56294 A=0.43706
The PAGE Study AfricanAmerican Sub 32510 C=0.47447 A=0.52553
The PAGE Study Mexican Sub 10810 C=0.68048 A=0.31952
The PAGE Study Asian Sub 8318 C=0.6534 A=0.3466
The PAGE Study PuertoRican Sub 7916 C=0.5691 A=0.4309
The PAGE Study NativeHawaiian Sub 4534 C=0.6623 A=0.3377
The PAGE Study Cuban Sub 4230 C=0.5624 A=0.4376
The PAGE Study Dominican Sub 3828 C=0.5366 A=0.4634
The PAGE Study CentralAmerican Sub 2448 C=0.6070 A=0.3930
The PAGE Study SouthAmerican Sub 1980 C=0.6576 A=0.3424
The PAGE Study NativeAmerican Sub 1260 C=0.6087 A=0.3913
The PAGE Study SouthAsian Sub 856 C=0.685 A=0.315
gnomAD - Genomes Global Study-wide 31326 C=0.57147 A=0.42853
gnomAD - Genomes European Sub 18870 C=0.60657 A=0.39343
gnomAD - Genomes African Sub 8682 C=0.4593 A=0.5407
gnomAD - Genomes East Asian Sub 1552 C=0.6817 A=0.3183
gnomAD - Genomes Other Sub 1086 C=0.6280 A=0.3720
gnomAD - Genomes American Sub 846 C=0.673 A=0.327
gnomAD - Genomes Ashkenazi Jewish Sub 290 C=0.548 A=0.452
1000Genomes Global Study-wide 5008 C=0.6036 A=0.3964
1000Genomes African Sub 1322 C=0.4470 A=0.5530
1000Genomes East Asian Sub 1008 C=0.7054 A=0.2946
1000Genomes Europe Sub 1006 C=0.6123 A=0.3877
1000Genomes South Asian Sub 978 C=0.696 A=0.304
1000Genomes American Sub 694 C=0.611 A=0.389
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.6246 A=0.3754
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5685 A=0.4315
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5607 A=0.4393
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7027 A=0.2973
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.6233 A=0.3767
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.666 A=0.334
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.700 A=0.300
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.517 A=0.483
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.566 A=0.434
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.343 A=0.657
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.861 A=0.139
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.90 A=0.10
HapMap Global Study-wide 1888 C=0.5736 A=0.4264
HapMap American Sub 768 C=0.634 A=0.366
HapMap African Sub 692 C=0.483 A=0.517
HapMap Asian Sub 252 C=0.643 A=0.357
HapMap Europe Sub 176 C=0.568 A=0.432
Korean Genome Project KOREAN Study-wide 1832 C=0.7189 A=0.2811
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.576 A=0.424
Northern Sweden ACPOP Study-wide 600 C=0.570 A=0.430
SGDP_PRJ Global Study-wide 292 C=0.373 A=0.627
Qatari Global Study-wide 216 C=0.523 A=0.477
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.667 A=0.333
The Danish reference pan genome Danish Study-wide 40 C=0.47 A=0.53
Siberian Global Study-wide 30 C=0.37 A=0.63
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
GRCh38.p12 chr 21 NC_000021.9:g.42421219= NC_000021.9:g.42421219C>A
GRCh37.p13 chr 21 NC_000021.8:g.43841328= NC_000021.8:g.43841328C>A
UBASH3A RefSeqGene NG_029750.2:g.22358= NG_029750.2:g.22358C>A
UBASH3A RefSeqGene NG_029750.1:g.22358= NG_029750.1:g.22358C>A
UBASH3A transcript variant 2 NM_001001895.2:c.932+2610= NM_001001895.2:c.932+2610C>A
UBASH3A transcript variant 2 NM_001001895.3:c.932+2610= NM_001001895.3:c.932+2610C>A
UBASH3A transcript variant 3 NM_001243467.1:c.932+2610= NM_001243467.1:c.932+2610C>A
UBASH3A transcript variant 3 NM_001243467.2:c.932+2610= NM_001243467.2:c.932+2610C>A
UBASH3A transcript variant 1 NM_018961.3:c.1046+2610= NM_018961.3:c.1046+2610C>A
UBASH3A transcript variant 1 NM_018961.4:c.1046+2610= NM_018961.4:c.1046+2610C>A
UBASH3A transcript variant X1 XM_006724013.3:c.989+2610= XM_006724013.3:c.989+2610C>A
UBASH3A transcript variant X2 XM_011529605.3:c.1046+2610= XM_011529605.3:c.1046+2610C>A
UBASH3A transcript variant X3 XM_011529606.3:c.641+2610= XM_011529606.3:c.641+2610C>A
UBASH3A transcript variant X4 XM_011529607.2:c.641+2610= XM_011529607.2:c.641+2610C>A
UBASH3A transcript variant X6 XM_011529609.2:c.1046+2610= XM_011529609.2:c.1046+2610C>A
UBASH3A transcript variant X7 XM_011529610.2:c.230+2610= XM_011529610.2:c.230+2610C>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#.

98 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4974383 Aug 28, 2002 (107)
2 BCM_SSAHASNP ss10984191 Jul 11, 2003 (116)
3 WI_SSAHASNP ss12509543 Jul 11, 2003 (116)
4 WUGSC_SSAHASNP ss14445384 Dec 05, 2003 (119)
5 ABI ss44259224 Mar 15, 2006 (126)
6 ILLUMINA ss67303215 Nov 30, 2006 (127)
7 ILLUMINA ss67708168 Nov 30, 2006 (127)
8 ILLUMINA ss68221684 Dec 12, 2006 (127)
9 ILLUMINA ss70781866 May 24, 2008 (130)
10 ILLUMINA ss71358356 May 17, 2007 (127)
11 ILLUMINA ss75916487 Dec 07, 2007 (129)
12 HGSV ss78330902 Dec 07, 2007 (129)
13 HGSV ss78946741 Dec 07, 2007 (129)
14 KRIBB_YJKIM ss84184483 Dec 15, 2007 (130)
15 HGSV ss85322281 Dec 15, 2007 (130)
16 BCMHGSC_JDW ss91850991 Mar 24, 2008 (129)
17 HUMANGENOME_JCVI ss96172442 Feb 05, 2009 (130)
18 BGI ss106215396 Feb 05, 2009 (130)
19 1000GENOMES ss112505887 Jan 25, 2009 (130)
20 1000GENOMES ss113951314 Jan 25, 2009 (130)
21 ILLUMINA-UK ss117540056 Feb 14, 2009 (130)
22 ENSEMBL ss138323081 Dec 01, 2009 (131)
23 ENSEMBL ss139555618 Dec 01, 2009 (131)
24 ILLUMINA ss154269365 Dec 01, 2009 (131)
25 ILLUMINA ss159446138 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss169619877 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss172075589 Jul 04, 2010 (132)
28 ILLUMINA ss173639538 Jul 04, 2010 (132)
29 BUSHMAN ss204029514 Jul 04, 2010 (132)
30 1000GENOMES ss228586577 Jul 14, 2010 (132)
31 1000GENOMES ss237998362 Jul 15, 2010 (132)
32 1000GENOMES ss244133711 Jul 15, 2010 (132)
33 GMI ss283556627 May 04, 2012 (137)
34 GMI ss287538162 Apr 25, 2013 (138)
35 PJP ss292718184 May 09, 2011 (134)
36 TISHKOFF ss566521787 Apr 25, 2013 (138)
37 SSMP ss662432642 Apr 25, 2013 (138)
38 ILLUMINA ss832957700 Jul 13, 2019 (153)
39 EVA-GONL ss995158377 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1082530174 Aug 21, 2014 (142)
41 1000GENOMES ss1366434573 Aug 21, 2014 (142)
42 DDI ss1429196820 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1579679199 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1639641573 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1682635606 Apr 01, 2015 (144)
46 EVA_DECODE ss1699230013 Apr 01, 2015 (144)
47 EVA_SVP ss1713726896 Apr 01, 2015 (144)
48 HAMMER_LAB ss1809705699 Sep 08, 2015 (146)
49 WEILL_CORNELL_DGM ss1938708884 Feb 12, 2016 (147)
50 ILLUMINA ss1946570338 Feb 12, 2016 (147)
51 ILLUMINA ss1959957376 Feb 12, 2016 (147)
52 GENOMED ss1969234742 Jul 19, 2016 (147)
53 JJLAB ss2030128887 Sep 14, 2016 (149)
54 ILLUMINA ss2094921355 Dec 20, 2016 (150)
55 ILLUMINA ss2095120038 Dec 20, 2016 (150)
56 ILLUMINA ss2095120039 Dec 20, 2016 (150)
57 USC_VALOUEV ss2158733852 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2246075147 Dec 20, 2016 (150)
59 TOPMED ss2412765862 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2629563650 Nov 08, 2017 (151)
61 GRF ss2704465137 Nov 08, 2017 (151)
62 ILLUMINA ss2710951378 Nov 08, 2017 (151)
63 GNOMAD ss2972195251 Nov 08, 2017 (151)
64 AFFY ss2985849410 Nov 08, 2017 (151)
65 SWEGEN ss3018952705 Nov 08, 2017 (151)
66 ILLUMINA ss3022163454 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3028904171 Nov 08, 2017 (151)
68 CSHL ss3352737830 Nov 08, 2017 (151)
69 TOPMED ss3371684955 Nov 08, 2017 (151)
70 ILLUMINA ss3625798087 Oct 12, 2018 (152)
71 ILLUMINA ss3638370600 Oct 12, 2018 (152)
72 ILLUMINA ss3639189356 Oct 12, 2018 (152)
73 ILLUMINA ss3639897044 Oct 12, 2018 (152)
74 ILLUMINA ss3643331321 Oct 12, 2018 (152)
75 ILLUMINA ss3643944482 Oct 12, 2018 (152)
76 ILLUMINA ss3644793865 Oct 12, 2018 (152)
77 URBANLAB ss3651124458 Oct 12, 2018 (152)
78 ILLUMINA ss3652624145 Oct 12, 2018 (152)
79 ILLUMINA ss3652624146 Oct 12, 2018 (152)
80 EGCUT_WGS ss3685530385 Jul 13, 2019 (153)
81 EVA_DECODE ss3707808365 Jul 13, 2019 (153)
82 ILLUMINA ss3725951603 Jul 13, 2019 (153)
83 ACPOP ss3743766373 Jul 13, 2019 (153)
84 ILLUMINA ss3744204100 Jul 13, 2019 (153)
85 ILLUMINA ss3744498911 Jul 13, 2019 (153)
86 EVA ss3759154932 Jul 13, 2019 (153)
87 PAGE_CC ss3772077172 Jul 13, 2019 (153)
88 PACBIO ss3788774566 Jul 13, 2019 (153)
89 PACBIO ss3793647492 Jul 13, 2019 (153)
90 PACBIO ss3798533804 Jul 13, 2019 (153)
91 KHV_HUMAN_GENOMES ss3822321134 Jul 13, 2019 (153)
92 EVA ss3835895418 Apr 27, 2020 (154)
93 EVA ss3841575168 Apr 27, 2020 (154)
94 EVA ss3847088851 Apr 27, 2020 (154)
95 HGDP ss3847682750 Apr 27, 2020 (154)
96 SGDP_PRJ ss3890083605 Apr 27, 2020 (154)
97 KRGDB ss3940429269 Apr 27, 2020 (154)
98 KOGIC ss3983166945 Apr 27, 2020 (154)
99 1000Genomes NC_000021.8 - 43841328 Oct 12, 2018 (152)
100 The Avon Longitudinal Study of Parents and Children NC_000021.8 - 43841328 Oct 12, 2018 (152)
101 Genetic variation in the Estonian population NC_000021.8 - 43841328 Oct 12, 2018 (152)
102 The Danish reference pan genome NC_000021.8 - 43841328 Apr 27, 2020 (154)
103 gnomAD - Genomes NC_000021.8 - 43841328 Jul 13, 2019 (153)
104 Genome of the Netherlands Release 5 NC_000021.8 - 43841328 Apr 27, 2020 (154)
105 HGDP-CEPH-db Supplement 1 NC_000021.7 - 42714397 Apr 27, 2020 (154)
106 HapMap NC_000021.9 - 42421219 Apr 27, 2020 (154)
107 KOREAN population from KRGDB NC_000021.8 - 43841328 Apr 27, 2020 (154)
108 Korean Genome Project NC_000021.9 - 42421219 Apr 27, 2020 (154)
109 Northern Sweden NC_000021.8 - 43841328 Jul 13, 2019 (153)
110 The PAGE Study NC_000021.9 - 42421219 Jul 13, 2019 (153)
111 Qatari NC_000021.8 - 43841328 Apr 27, 2020 (154)
112 SGDP_PRJ NC_000021.8 - 43841328 Apr 27, 2020 (154)
113 Siberian NC_000021.8 - 43841328 Apr 27, 2020 (154)
114 TopMed NC_000021.9 - 42421219 Oct 12, 2018 (152)
115 UK 10K study - Twins NC_000021.8 - 43841328 Oct 12, 2018 (152)
116 A Vietnamese Genetic Variation Database NC_000021.8 - 43841328 Jul 13, 2019 (153)
117 dbGaP Population Frequency Project NC_000021.9 - 42421219 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)
rs58418564 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
360642, ss78330902, ss78946741, ss85322281, ss91850991, ss112505887, ss113951314, ss117540056, ss169619877, ss172075589, ss204029514, ss283556627, ss287538162, ss292718184, ss1699230013, ss1713726896, ss2094921355, ss3639189356, ss3639897044, ss3643331321, ss3643944482, ss3847682750 NC_000021.7:42714396:C:A NC_000021.9:42421218:C:A (self)
79959942, 44257327, 31268633, 5844138, 218126568, 19715115, 47606663, 17051238, 20750806, 42100585, 11250206, 44257327, 9765707, ss228586577, ss237998362, ss244133711, ss566521787, ss662432642, ss832957700, ss995158377, ss1082530174, ss1366434573, ss1429196820, ss1579679199, ss1639641573, ss1682635606, ss1809705699, ss1938708884, ss1946570338, ss1959957376, ss1969234742, ss2030128887, ss2095120038, ss2095120039, ss2158733852, ss2412765862, ss2629563650, ss2704465137, ss2710951378, ss2972195251, ss2985849410, ss3018952705, ss3022163454, ss3352737830, ss3625798087, ss3638370600, ss3644793865, ss3652624145, ss3652624146, ss3685530385, ss3743766373, ss3744204100, ss3744498911, ss3759154932, ss3788774566, ss3793647492, ss3798533804, ss3835895418, ss3841575168, ss3890083605, ss3940429269 NC_000021.8:43841327:C:A NC_000021.9:42421218:C:A (self)
2217306, 39544946, 1298641, 236077513, 70573854, ss2246075147, ss3028904171, ss3371684955, ss3651124458, ss3707808365, ss3725951603, ss3772077172, ss3822321134, ss3847088851, ss3983166945 NC_000021.9:42421218:C:A NC_000021.9:42421218:C:A (self)
ss4974383, ss44259224, ss67303215, ss67708168, ss68221684, ss70781866, ss71358356, ss75916487, ss84184483, ss96172442, ss106215396, ss138323081, ss139555618, ss154269365, ss159446138, ss173639538 NT_011515.12:835768:C:A NC_000021.9:42421218:C:A (self)
ss10984191, ss12509543 NT_030188.2:590653:C:A NC_000021.9:42421218:C:A (self)
ss14445384 NT_030188.3:590653:C:A NC_000021.9:42421218:C:A (self)
Help

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

9 citations for rs3788013
PMID Title Author Year Journal
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease. Smyth DJ et al. 2008 The New England journal of medicine
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
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
21829393 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. Plagnol V et al. 2011 PLoS genetics
21873553 Genetic analysis of adult-onset autoimmune diabetes. Howson JM et al. 2011 Diabetes
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
25843625 Association of UBASH3A gene polymorphisms and systemic lupus erythematosus in a Chinese population. Liu J et al. 2015 Gene
28747736 Association of UBASH3A gene polymorphism and atopic dermatitis in the Chinese Han population. Li Y et al. 2017 Genes and immunity
30822156 UBASH3A gene polymorphisms and expression profile in rheumatoid arthritis. Yang XK et al. 2019 Autoimmunity
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