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rs1085307072

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome5
Position119452578
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs1085307072
dbSNP (old)rs1085307072
ClinGenrs1085307072
ebirs1085307072
HLIrs1085307072
Exacrs1085307072
Gnomadrs1085307072
Varsomers1085307072
Maprs1085307072
PheGenIrs1085307072
Biobankrs1085307072
1000 genomesrs1085307072
hgdprs1085307072
ensemblrs1085307072
gopubmedrs1085307072
geneviewrs1085307072
scholarrs1085307072
googlers1085307072
pharmgkbrs1085307072
gwascentralrs1085307072
openSNPrs1085307072
23andMers1085307072
23andMe allrs1085307072
SNPshotrs1085307072
SNPdbers1085307072
MSV3drs1085307072
GWAS Ctlgrs1085307072
Max Magnitude0
ClinVar
Risk rs1085307072(A;A)
Alt rs1085307072(A;A)
Reference Rs1085307072(G;G)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency Gonadal dysgenesis with auditory dysfunction
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Reversed 0
HGVS NC_000005.9:g.118788273G>A
CLNSRC
CLNACC RCV000490425.1,