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rs25640

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs25640(A;A)
Make rs25640(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position119475838
GeneHSD17B4
is asnp
is mentioned by
dbSNPrs25640
ebirs25640
HLIrs25640
Exacrs25640
Varsomers25640
Maprs25640
PheGenIrs25640
hapmaprs25640
1000 genomesrs25640
hgdprs25640
ensemblrs25640
gopubmedrs25640
geneviewrs25640
scholarrs25640
googlers25640
pharmgkbrs25640
gwascentralrs25640
openSNPrs25640
23andMers25640
23andMe allrs25640
SNP Nexus

SNPshotrs25640
SNPdbers25640
MSV3drs25640
GWAS Ctlgrs25640
GMAF0.3994
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM601860
Desc
Variant0005
Relatedalso


ClinVar
Risk rs25640(A,C;A,C)
Alt rs25640(A,C;A,C)
Reference rs25640(G;G)
Significance Pathogenic
Disease not specified Bifunctional peroxisomal enzyme deficiency
Variation info
Gene HSD17B4
CLNDBN not specified Bifunctional peroxisomal enzyme deficiency
Reversed 0
HGVS NC_000005.9:g.118811533G>A; NC_000005.9:g.118811533G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000179310.2, RCV000008096.2,



GET Evidence
HSD17B4-R106H
aa_change Arg106His
aa_change_short R106H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.362165
summary