chr2:191902758:G>A Detail (hg19) (STAT4)

Information

Genome

Assembly Position
hg19 chr2:191,902,758-191,902,758
hg38 chr2:191,038,032-191,038,032 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001243835.1:c.1434+1167C>T
NM_003151.3:c.1434+1167C>T
Ensemble ENST00000358470.8:c.1434+1167C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.404
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600558 OMIM
HGNC 11365 HGNC
Ensembl ENSG00000138378 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9930796 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
0.257 systemic scleroderma Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), ... BeFree 22440820 Detail
0.246 systemic scleroderma Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), ... BeFree 22440820 Detail
0.257 systemic scleroderma [Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 1... GAD 20383147 Detail
0.257 systemic scleroderma Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10... GWASCAT 20383147 Detail
0.324 Lupus Erythematosus, Systemic Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythem... GWASCAT 19165918 Detail
0.257 systemic scleroderma [Identification of novel genetic markers associated with clinical phenotypes of ... GAD 21779181 Detail
0.257 systemic scleroderma Identification of novel genetic markers associated with clinical phenotypes of s... GWASCAT 21779181 Detail
Annotation

Annotations

DescrptionSourceLinks
Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), C... DisGeNET Detail
Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), C... DisGeNET Detail
[Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1... DisGeNET Detail
Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.... DisGeNET Detail
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. DisGeNET Detail
[Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis t... DisGeNET Detail
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis th... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3821236 dbSNP
Genome
hg19
Position
chr2:191,902,758-191,902,758
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3821236
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4042
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6775
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser