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rs765702241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs765702241(C;G)
Make rs765702241(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position119456323
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs765702241
dbSNP (classic)rs765702241
ClinGenrs765702241
ebirs765702241
HLIrs765702241
Exacrs765702241
Gnomadrs765702241
Varsomers765702241
LitVarrs765702241
Maprs765702241
PheGenIrs765702241
Biobankrs765702241
1000 genomesrs765702241
hgdprs765702241
ensemblrs765702241
geneviewrs765702241
scholarrs765702241
googlers765702241
pharmgkbrs765702241
gwascentralrs765702241
openSNPrs765702241
23andMers765702241
SNPshotrs765702241
SNPdbers765702241
MSV3drs765702241
GWAS Ctlgrs765702241
Max Magnitude0
ClinVar
Risk rs765702241(G;G) rs765702241(T;T)
Alt rs765702241(G;G) rs765702241(T;T)
Reference Rs765702241(C;C)
Significance Probable-Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118792018C>T
CLNSRC
CLNACC RCV000411032.1,