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rs786204455

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204455(C;T)
Make rs786204455(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23536743
GeneNPC1
is asnp
is mentioned by
dbSNPrs786204455
ebirs786204455
HLIrs786204455
Exacrs786204455
Varsomers786204455
Maprs786204455
PheGenIrs786204455
hapmaprs786204455
1000 genomesrs786204455
hgdprs786204455
ensemblrs786204455
gopubmedrs786204455
geneviewrs786204455
scholarrs786204455
googlers786204455
pharmgkbrs786204455
gwascentralrs786204455
openSNPrs786204455
23andMers786204455
23andMe allrs786204455
SNP Nexus

SNPshotrs786204455
SNPdbers786204455
MSV3drs786204455
GWAS Ctlgrs786204455
Max Magnitude0
ClinVar
Risk rs786204455(T;T)
Alt rs786204455(T;T)
Reference rs786204455(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.21116707G>A
CLNSRC
CLNACC RCV000169092.1,