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rs137853097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853097(A;T)
Make rs137853097(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position119509176
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs137853097
ebirs137853097
HLIrs137853097
Exacrs137853097
Varsomers137853097
Maprs137853097
PheGenIrs137853097
hapmaprs137853097
1000 genomesrs137853097
hgdprs137853097
ensemblrs137853097
gopubmedrs137853097
geneviewrs137853097
scholarrs137853097
googlers137853097
pharmgkbrs137853097
gwascentralrs137853097
openSNPrs137853097
23andMers137853097
23andMe allrs137853097
SNP Nexus

SNPshotrs137853097
SNPdbers137853097
MSV3drs137853097
GWAS Ctlgrs137853097
Max Magnitude0
OMIM601860
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853097(G,T;G,T)
Alt rs137853097(G,T;G,T)
Reference rs137853097(A;A)
Significance Pathogenic
Disease Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118844871A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008095.2,