chr12:68157629:C>T Detail (hg38) (IFNG)

Information

Genome

Assembly Position
hg19 chr12:68,551,409-68,551,409 View the variant detail on this assembly version.
hg38 chr12:68,157,629-68,157,629

HGVS

Type Transcript Protein
RefSeq NM_000619.2:c.366+284G>A
Ensemble ENST00000229135.4:c.366+284G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.507
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 147570 OMIM
HGNC 5438 HGNC
Ensembl ENSG00000111537 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46302279 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 irritable bowel syndrome IFNG rs1861494 polymorphism is associated with IBD disease severity and function... BeFree 25171510 Detail
0.043 asthma In conclusion, we report for the first time association of rs1861494 A/G polymor... BeFree 18385742 Detail
0.130 Crohn Disease Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs... BeFree 25171510 Detail
0.012 ulcerative colitis Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs... BeFree 25171510 Detail
0.009 Inflammatory Bowel Diseases IFNG rs1861494 polymorphism is associated with IBD disease severity and function... BeFree 25171510 Detail
0.007 Tuberculosis, Pulmonary Using multiple corrections, significant overall risk against PTB was observed at... BeFree 22771610 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000619.3(IFNG):c.366+284G>A AND not provided ClinVar Detail
IFNG rs1861494 polymorphism is associated with IBD disease severity and functional changes in both I... DisGeNET Detail
In conclusion, we report for the first time association of rs1861494 A/G polymorphism with asthma, w... DisGeNET Detail
Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs1861494 and analyzed... DisGeNET Detail
Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs1861494 and analyzed... DisGeNET Detail
IFNG rs1861494 polymorphism is associated with IBD disease severity and functional changes in both I... DisGeNET Detail
Using multiple corrections, significant overall risk against PTB was observed at seven loci which in... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1861494 dbSNP
Genome
hg38
Position
chr12:68,157,629-68,157,629
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))
rs1861494
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5074
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8504
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser