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rs143124972

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143124972(A;A)
Make rs143124972(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23539447
GeneNPC1
is asnp
is mentioned by
dbSNPrs143124972
ebirs143124972
HLIrs143124972
Exacrs143124972
Varsomers143124972
Maprs143124972
PheGenIrs143124972
hapmaprs143124972
1000 genomesrs143124972
hgdprs143124972
ensemblrs143124972
gopubmedrs143124972
geneviewrs143124972
scholarrs143124972
googlers143124972
pharmgkbrs143124972
gwascentralrs143124972
openSNPrs143124972
23andMers143124972
23andMe allrs143124972
SNP Nexus

SNPshotrs143124972
SNPdbers143124972
MSV3drs143124972
GWAS Ctlgrs143124972
Max Magnitude0
ClinVar
Risk rs143124972(A;A)
Alt rs143124972(A;A)
Reference rs143124972(G;G)
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.21119411G>A
CLNSRC
CLNACC RCV000169010.1,