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rs376230356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376230356(A;A)
Make rs376230356(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position218809701
GeneCYP27A1
is asnp
is mentioned by
dbSNPrs376230356
ebirs376230356
HLIrs376230356
Exacrs376230356
Varsomers376230356
Maprs376230356
PheGenIrs376230356
hapmaprs376230356
1000 genomesrs376230356
hgdprs376230356
ensemblrs376230356
gopubmedrs376230356
geneviewrs376230356
scholarrs376230356
googlers376230356
pharmgkbrs376230356
gwascentralrs376230356
openSNPrs376230356
23andMers376230356
23andMe allrs376230356
SNP Nexus

SNPshotrs376230356
SNPdbers376230356
MSV3drs376230356
GWAS Ctlgrs376230356
Max Magnitude0
ClinVar
Risk rs376230356(A;A)
Alt rs376230356(A;A)
Reference rs376230356(G;G)
Significance Pathogenic
Disease Cholestanol storage disease
Variation info
Gene CYP27A1
CLNDBN Cholestanol storage disease
Reversed 0
HGVS NC_000002.11:g.219674424G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000056111.1,