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rs137853096

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 7 DBP deficiency (predicted)
(A;G) 3 Carrier of a DBP deficiency mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome5
Position119452621
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs137853096
dbSNP (classic)rs137853096
ClinGenrs137853096
ebirs137853096
HLIrs137853096
Exacrs137853096
Gnomadrs137853096
Varsomers137853096
LitVarrs137853096
Maprs137853096
PheGenIrs137853096
Biobankrs137853096
1000 genomesrs137853096
hgdprs137853096
ensemblrs137853096
geneviewrs137853096
scholarrs137853096
googlers137853096
pharmgkbrs137853096
gwascentralrs137853096
openSNPrs137853096
23andMers137853096
23andMe allrs137853096
SNPshotrs137853096
SNPdbers137853096
MSV3drs137853096
GWAS Ctlgrs137853096
Max Magnitude7

aka c.46G>A (p.Gly16Ser or G16S)

23andMe name: i5007145

OMIM601860
Desc
Variant0003
Relatedalso
ClinVar
Risk Rs137853096(A;A) rs137853096(C;C)
Alt Rs137853096(A;A) rs137853096(C;C)
Reference Rs137853096(G;G)
Significance Other
Disease Bifunctional peroxisomal enzyme deficiency not provided
Variation info
Gene HSD17B4
CLNDBN Bifunctional peroxisomal enzyme deficiency not provided
Reversed 0
HGVS NC_000005.9:g.118788316G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008094.4, RCV000415821.1,