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rs141243713

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141243713(A;A)
Make rs141243713(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23561510
GeneNPC1
is asnp
is mentioned by
dbSNPrs141243713
ebirs141243713
HLIrs141243713
Exacrs141243713
Varsomers141243713
Maprs141243713
PheGenIrs141243713
hapmaprs141243713
1000 genomesrs141243713
hgdprs141243713
ensemblrs141243713
gopubmedrs141243713
geneviewrs141243713
scholarrs141243713
googlers141243713
pharmgkbrs141243713
gwascentralrs141243713
openSNPrs141243713
23andMers141243713
23andMe allrs141243713
SNP Nexus

SNPshotrs141243713
SNPdbers141243713
MSV3drs141243713
GWAS Ctlgrs141243713
Max Magnitude0
ClinVar
Risk rs141243713(A;A)
Alt rs141243713(A;A)
Reference rs141243713(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.21141474G>A
CLNSRC
CLNACC RCV000158969.1,