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rs786204586

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204586(C;T)
Make rs786204586(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23539373
GeneNPC1
is asnp
is mentioned by
dbSNPrs786204586
ebirs786204586
HLIrs786204586
Exacrs786204586
Varsomers786204586
Maprs786204586
PheGenIrs786204586
hapmaprs786204586
1000 genomesrs786204586
hgdprs786204586
ensemblrs786204586
gopubmedrs786204586
geneviewrs786204586
scholarrs786204586
googlers786204586
pharmgkbrs786204586
gwascentralrs786204586
openSNPrs786204586
23andMers786204586
23andMe allrs786204586
SNP Nexus

SNPshotrs786204586
SNPdbers786204586
MSV3drs786204586
GWAS Ctlgrs786204586
Max Magnitude0
ClinVar
Risk rs786204586(T;T)
Alt rs786204586(T;T)
Reference rs786204586(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.21119337G>A
CLNSRC
CLNACC RCV000169331.1,