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rs387906825

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906825(A;G)
Make rs387906825(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position119489219
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs387906825
ebirs387906825
HLIrs387906825
Exacrs387906825
Varsomers387906825
Maprs387906825
PheGenIrs387906825
hapmaprs387906825
1000 genomesrs387906825
hgdprs387906825
ensemblrs387906825
gopubmedrs387906825
geneviewrs387906825
scholarrs387906825
googlers387906825
pharmgkbrs387906825
gwascentralrs387906825
openSNPrs387906825
23andMers387906825
23andMe allrs387906825
SNP Nexus

SNPshotrs387906825
SNPdbers387906825
MSV3drs387906825
GWAS Ctlgrs387906825
Max Magnitude0
ClinVar
Risk rs387906825(G;G)
Alt rs387906825(G;G)
Reference rs387906825(A;A)
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.118824914A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023152.3,