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rs587777442

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777442(C;T)
Make rs587777442(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position119456357
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs587777442
ebirs587777442
HLIrs587777442
Exacrs587777442
Varsomers587777442
Maprs587777442
PheGenIrs587777442
hapmaprs587777442
1000 genomesrs587777442
hgdprs587777442
ensemblrs587777442
gopubmedrs587777442
geneviewrs587777442
scholarrs587777442
googlers587777442
pharmgkbrs587777442
gwascentralrs587777442
openSNPrs587777442
23andMers587777442
23andMe allrs587777442
SNP Nexus

SNPshotrs587777442
SNPdbers587777442
MSV3drs587777442
GWAS Ctlgrs587777442
Max Magnitude0
ClinVar
Risk rs587777442(T;T)
Alt rs587777442(T;T)
Reference rs587777442(C;C)
Significance Pathogenic
Disease Gonadal dysgenesis with auditory dysfunction
Variation info
Gene HSD17B4
CLNDBN Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Reversed 0
HGVS NC_000005.9:g.118792052C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000125465.2,