chr2:191969879:G>C Detail (hg19) (STAT4)

Information

Genome

Assembly Position
hg19 chr2:191,969,879-191,969,879
hg38 chr2:191,105,153-191,105,153 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003151.3:c.274-28828C>G
NM_001243835.1:c.274-28828C>G
Ensemble ENST00000392320.7:c.274-28828C>G
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 397
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.665
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 tgv9932290 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
not provided hepatitis B MGS000002
(TMGS000002) 		Masashi Mizokami National Center for Global Health and Medicine
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
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
0.317 rheumatoid arthritis In addition, rs7574865 and rs10181656, in STAT4, were associated with ACPA-posit... BeFree 22753649 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
0.324 Lupus Erythematosus, Systemic To investigate whether the risk allele for systemic lupus erythematosus (SLE) in... BeFree 19762360 Detail
<0.001 Arthritis, Psoriatic Significant evidence for association with susceptibility to PsA was found toa SN... BeFree 22328738 Detail
Annotation

Annotations

DescrptionSourceLinks
Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (C... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
In addition, rs7574865 and rs10181656, in STAT4, were associated with ACPA-positive RA in the Swedis... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail
To investigate whether the risk allele for systemic lupus erythematosus (SLE) in the signal transduc... DisGeNET Detail
Significant evidence for association with susceptibility to PsA was found toa SNP mapping to the REL... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10181656 dbSNP
Genome
hg19
Position
chr2:191,969,879-191,969,879
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))
rs10181656
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6647
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11141
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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