chr22:41619761:C>T Detail (hg38) (DESI1)

Information

Genome

Assembly Position
hg19 chr22:42,015,765-42,015,765 View the variant detail on this assembly version.
hg38 chr22:41,619,761-41,619,761

HGVS

Type Transcript Protein
RefSeq NM_015704.2:c.88+991G>A
Ensemble ENST00000263256.7:c.88+991G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.923
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 614637 OMIM
HGNC 24577 HGNC
Ensembl ENSG00000100418 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66031975 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
0.003 breast carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
0.015 Malignant neoplasm of breast Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
0.001 renal cell carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
<0.001 liver carcinoma Sensitivity analyses were also performed.The rs2267437 polymorphism was associat... BeFree 25569644 Detail
Annotation

Annotations

DescrptionSourceLinks
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail
Sensitivity analyses were also performed.The rs2267437 polymorphism was associated with a significan... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs5751129 dbSNP
Genome
hg38
Position
chr22:41,619,761-41,619,761
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))
rs5751129
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9229
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15468
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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