chr6:137874929:T>C Detail (hg38) (TNFAIP3)

Information

Genome

Assembly Position
hg19 chr6:138,196,066-138,196,066 View the variant detail on this assembly version.
hg38 chr6:137,874,929-137,874,929

HGVS

Type Transcript Protein
RefSeq NM_001270507.1:c.380T>C NP_001257436.1:p.Phe127Ser
NM_001270508.1:c.380T>C NP_001257437.1:p.Phe127Ser
NM_006290.3:c.380T>C NP_006281.1:p.Phe127Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 191163 OMIM
HGNC 11896 HGNC
Ensembl ENSG00000118503 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Lupus Erythematosus, Systemic Association of rs2230926 G allele with SLE was replicated in Japanese (allelic a... BeFree 20617138 Detail
0.268 Lupus Erythematosus, Systemic Genome-wide association study in a Chinese Han population identifies nine new su... GWASCAT 19838193 Detail
0.003 arthritis Interestingly, rs2230926 of TNFAIP3 was also associated with arthritis, ANA and ... BeFree 19774492 Detail
0.168 rheumatoid arthritis TNFAIP3 rs2230926 polymorphisms in rheumatoid arthritis of southern Chinese Han ... BeFree 25674272 Detail
0.268 Lupus Erythematosus, Systemic [Genome-wide association study in a Chinese Han population identifies nine new s... GAD 19838193 Detail
0.268 Lupus Erythematosus, Systemic There are two nonsynonymous coding polymorphisms in the deubiquitinating (DUB) d... BeFree 20483768 Detail
0.268 Lupus Erythematosus, Systemic Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, C... GWASCAT 23273568 Detail
0.129 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.006 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.248 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.123 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
<0.001 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.168 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.243 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.123 rheumatoid arthritis Genetic factors regarded as putative risk factors were RA-susceptible polymorphi... BeFree 23577190 Detail
0.268 Lupus Erythematosus, Systemic Associations of TNFAIP3 rs2230926 (p=1.43 × 10(-3)) and TNIP1 rs10036748 (p=4.33... BeFree 23911423 Detail
Annotation

Annotations

DescrptionSourceLinks
Association of rs2230926 G allele with SLE was replicated in Japanese (allelic association P = .033,... DisGeNET Detail
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci fo... DisGeNET Detail
Interestingly, rs2230926 of TNFAIP3 was also associated with arthritis, ANA and some other subphenot... DisGeNET Detail
TNFAIP3 rs2230926 polymorphisms in rheumatoid arthritis of southern Chinese Han population: a case-c... DisGeNET Detail
[Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci f... DisGeNET Detail
There are two nonsynonymous coding polymorphisms in the deubiquitinating (DUB) domain of TNFAIP3: F1... DisGeNET Detail
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by th... DisGeNET Detail
Associations of TNFAIP3 rs2230926 (p=1.43 × 10(-3)) and TNIP1 rs10036748 (p=4.33 × 10(-3)) with SLE ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr6:137,874,929-137,874,929
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121386
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.238182327451271E-6
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