chrY:57186044:T>C Detail (hg38) (IL9R)

Information

Genome

Assembly Position
hg19 chrY:59,332,195-59,332,195 View the variant detail on this assembly version.
hg38 chrY:57,186,044-57,186,044

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000711286.1:c.28+1737T>C
ENST00000711287.1:c.44+1737T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 300007 OMIM
HGNC 6030 HGNC
Ensembl ENSG00000124334 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
<0.001 Alzheimer's disease In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT geno... BeFree 21371865 Detail
<0.001 Alzheimer's disease In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT geno... BeFree 21371865 Detail
Annotation

Annotations

DescrptionSourceLinks
In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT genotype combination (IL... DisGeNET Detail
In a subsequent gene-gene interaction analysis, the rs31563 GG/rs3093467 TT genotype combination (IL... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3093467 dbSNP
Genome
hg38
Position
chrY:57,186,044-57,186,044
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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