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rs587777443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777443(C;C)
Make rs587777443(C;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position119525259
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs587777443
ebirs587777443
HLIrs587777443
Exacrs587777443
Varsomers587777443
Maprs587777443
PheGenIrs587777443
hapmaprs587777443
1000 genomesrs587777443
hgdprs587777443
ensemblrs587777443
gopubmedrs587777443
geneviewrs587777443
scholarrs587777443
googlers587777443
pharmgkbrs587777443
gwascentralrs587777443
openSNPrs587777443
23andMers587777443
23andMe allrs587777443
SNP Nexus

SNPshotrs587777443
SNPdbers587777443
MSV3drs587777443
GWAS Ctlgrs587777443
Max Magnitude0
ClinVar
Risk rs587777443(C;C)
Alt rs587777443(C;C)
Reference rs587777443(T;T)
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.118860954T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000125466.3,