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rs786204512

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204512(C;T)
Make rs786204512(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23539845
GeneNPC1
is asnp
is mentioned by
dbSNPrs786204512
ebirs786204512
HLIrs786204512
Exacrs786204512
Varsomers786204512
Maprs786204512
PheGenIrs786204512
hapmaprs786204512
1000 genomesrs786204512
hgdprs786204512
ensemblrs786204512
gopubmedrs786204512
geneviewrs786204512
scholarrs786204512
googlers786204512
pharmgkbrs786204512
gwascentralrs786204512
openSNPrs786204512
23andMers786204512
23andMe allrs786204512
SNP Nexus

SNPshotrs786204512
SNPdbers786204512
MSV3drs786204512
GWAS Ctlgrs786204512
Max Magnitude0
ClinVar
Risk rs786204512(T;T)
Alt rs786204512(T;T)
Reference rs786204512(C;C)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21119809G>A
CLNSRC
CLNACC RCV000169199.1,