chr2:191943742:C>T Detail (hg19) (STAT4)

Information

Genome

Assembly Position
hg19 chr2:191,943,742-191,943,742
hg38 chr2:191,079,016-191,079,016 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003151.3:c.274-2691G>A
NM_001243835.1:c.274-2691G>A
Ensemble ENST00000413064.6:c.193-2691G>A
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 1
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.306
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 tgv9931842 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided biliary cirrhosis, primary not provided MGS000089
(TMGS000168) 		Minoru Nakamura
Minoru Nakamura		 National Hospital Organization Nagasaki Medical Center
National Hospital Organization Nagasaki Medical Center
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.317 rheumatoid arthritis Genetics of rheumatoid arthritis contributes to biology and drug discovery. GWASCAT 24390342 Detail
0.006 ulcerative colitis Genomic DNA from 2704 individuals of Caucasian origin including 857 patients wit... BeFree 20454450 Detail
Annotation

Annotations

DescrptionSourceLinks
Genetics of rheumatoid arthritis contributes to biology and drug discovery. DisGeNET Detail
Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11889341 dbSNP
Genome
hg19
Position
chr2:191,943,742-191,943,742
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs11889341
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3061
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5130
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser