Have questions? Visit https://www.reddit.com/r/SNPedia

rs201009485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201009485(A;A)
Make rs201009485(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position119525971
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs201009485
ebirs201009485
HLIrs201009485
Exacrs201009485
Varsomers201009485
Maprs201009485
PheGenIrs201009485
hapmaprs201009485
1000 genomesrs201009485
hgdprs201009485
ensemblrs201009485
gopubmedrs201009485
geneviewrs201009485
scholarrs201009485
googlers201009485
pharmgkbrs201009485
gwascentralrs201009485
openSNPrs201009485
23andMers201009485
23andMe allrs201009485
SNP Nexus

SNPshotrs201009485
SNPdbers201009485
MSV3drs201009485
GWAS Ctlgrs201009485
Max Magnitude0
ClinVar
Risk rs201009485(A,C;A,C)
Alt rs201009485(A,C;A,C)
Reference rs201009485(G;G)
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.118861666G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000125468.3,