chr2:191101726:G>C Detail (hg38) (STAT4)

Information

Genome

Assembly Position
hg19 chr2:191,966,452-191,966,452 View the variant detail on this assembly version.
hg38 chr2:191,101,726-191,101,726

HGVS

Type Transcript Protein
RefSeq NM_001243835.1:c.274-25401C>G
NM_003151.3:c.274-25401C>G
Ensemble ENST00000358470.8:c.274-25401C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.666
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 tgv9932233 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
0.006 ulcerative colitis Genomic DNA from 2704 individuals of Caucasian origin including 857 patients wit... BeFree 20454450 Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs7568275 dbSNP
Genome
hg38
Position
chr2:191,101,726-191,101,726
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs7568275
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6665
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11171
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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