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rs786204641

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204641(C;T)
Make rs786204641(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23539842
GeneNPC1
is asnp
is mentioned by
dbSNPrs786204641
ebirs786204641
HLIrs786204641
Exacrs786204641
Varsomers786204641
Maprs786204641
PheGenIrs786204641
hapmaprs786204641
1000 genomesrs786204641
hgdprs786204641
ensemblrs786204641
gopubmedrs786204641
geneviewrs786204641
scholarrs786204641
googlers786204641
pharmgkbrs786204641
gwascentralrs786204641
openSNPrs786204641
23andMers786204641
23andMe allrs786204641
SNP Nexus

SNPshotrs786204641
SNPdbers786204641
MSV3drs786204641
GWAS Ctlgrs786204641
Max Magnitude0
ClinVar
Risk rs786204641(T;T)
Alt rs786204641(T;T)
Reference rs786204641(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.21119806G>A
CLNSRC
CLNACC RCV000169423.1,