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rs573951598

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs573951598(C;T)
Make rs573951598(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position218814408
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs573951598
ebirs573951598
HLIrs573951598
Exacrs573951598
Varsomers573951598
Maprs573951598
PheGenIrs573951598
hapmaprs573951598
1000 genomesrs573951598
hgdprs573951598
ensemblrs573951598
gopubmedrs573951598
geneviewrs573951598
scholarrs573951598
googlers573951598
pharmgkbrs573951598
gwascentralrs573951598
openSNPrs573951598
23andMers573951598
23andMe allrs573951598
SNP Nexus

SNPshotrs573951598
SNPdbers573951598
MSV3drs573951598
GWAS Ctlgrs573951598
Max Magnitude0
ClinVar
Risk rs573951598(T;T)
Alt rs573951598(T;T)
Reference rs573951598(C;C)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219679131C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000056078.1,