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rs764472245

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs764472245(A;C)
Make rs764472245(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23544958
GeneNPC1
is asnp
is mentioned by
dbSNPrs764472245
ebirs764472245
HLIrs764472245
Exacrs764472245
Varsomers764472245
Maprs764472245
PheGenIrs764472245
hapmaprs764472245
1000 genomesrs764472245
hgdprs764472245
ensemblrs764472245
gopubmedrs764472245
geneviewrs764472245
scholarrs764472245
googlers764472245
pharmgkbrs764472245
gwascentralrs764472245
openSNPrs764472245
23andMers764472245
23andMe allrs764472245
SNP Nexus

SNPshotrs764472245
SNPdbers764472245
MSV3drs764472245
GWAS Ctlgrs764472245
Max Magnitude0
ClinVar
Risk rs764472245(C;C)
Alt rs764472245(C;C)
Reference rs764472245(A;A)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 0
HGVS NC_000018.9:g.21124922A>C
CLNSRC
CLNACC RCV000169611.1,