Have questions? Visit https://www.reddit.com/r/SNPedia

rs786204714

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204714(A;A)
Make rs786204714(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23539465
GeneNPC1
is asnp
is mentioned by
dbSNPrs786204714
ebirs786204714
HLIrs786204714
Exacrs786204714
Varsomers786204714
Maprs786204714
PheGenIrs786204714
hapmaprs786204714
1000 genomesrs786204714
hgdprs786204714
ensemblrs786204714
gopubmedrs786204714
geneviewrs786204714
scholarrs786204714
googlers786204714
pharmgkbrs786204714
gwascentralrs786204714
openSNPrs786204714
23andMers786204714
23andMe allrs786204714
SNP Nexus

SNPshotrs786204714
SNPdbers786204714
MSV3drs786204714
GWAS Ctlgrs786204714
Max Magnitude0
ClinVar
Risk rs786204714(A;A)
Alt rs786204714(A;A)
Reference rs786204714(G;G)
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.21119429C>T
CLNSRC
CLNACC RCV000169530.1,