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rs587777444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777444(C;T)
Make rs587777444(T;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position119525250
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs587777444
ebirs587777444
HLIrs587777444
Exacrs587777444
Varsomers587777444
Maprs587777444
PheGenIrs587777444
hapmaprs587777444
1000 genomesrs587777444
hgdprs587777444
ensemblrs587777444
gopubmedrs587777444
geneviewrs587777444
scholarrs587777444
googlers587777444
pharmgkbrs587777444
gwascentralrs587777444
openSNPrs587777444
23andMers587777444
23andMe allrs587777444
SNP Nexus

SNPshotrs587777444
SNPdbers587777444
MSV3drs587777444
GWAS Ctlgrs587777444
Max Magnitude0
ClinVar
Risk rs587777444(T;T)
Alt rs587777444(T;T)
Reference rs587777444(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.118860945C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000125467.3,