chr21:34809693:C>T Detail (hg19) (IFNGR2)

Information

Genome

Assembly Position
hg19 chr21:34,809,693-34,809,693
hg38 chr21:33,437,386-33,437,386 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005534.3:c.*424C>T
NM_001329128.1:c.*424C>T
Ensemble ENST00000290219.11:c.*424C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.811
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 147569 OMIM
HGNC 5440 HGNC
Ensembl ENSG00000159128 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64889490 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
0.019 breast carcinoma Multivariate logistic regression found SNPs in genes important for T helper type... BeFree 23996684 Detail
<0.001 Malignant neoplasm of breast Multivariate logistic regression found SNPs in genes important for T helper type... BeFree 23996684 Detail
<0.001 breast carcinoma Multivariate logistic regression found SNPs in genes important for T helper type... BeFree 23996684 Detail
0.090 Malignant neoplasm of breast Multivariate logistic regression found SNPs in genes important for T helper type... BeFree 23996684 Detail
0.005 Malignant neoplasm of breast Multivariate logistic regression found SNPs in genes important for T helper type... BeFree 23996684 Detail
<0.001 breast carcinoma Multivariate logistic regression found SNPs in genes important for T helper type... BeFree 23996684 Detail
<0.001 Malignant neoplasm of breast Multivariate logistic regression found SNPs in genes important for T helper type... BeFree 23996684 Detail
<0.001 breast carcinoma Multivariate logistic regression found SNPs in genes important for T helper type... BeFree 23996684 Detail
Annotation

Annotations

DescrptionSourceLinks
Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... DisGeNET Detail
Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... DisGeNET Detail
Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... DisGeNET Detail
Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... DisGeNET Detail
Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... DisGeNET Detail
Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... DisGeNET Detail
Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... DisGeNET Detail
Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1059293 dbSNP
Genome
hg19
Position
chr21:34,809,693-34,809,693
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))
rs1059293
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8112
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13595
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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