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

rs794727897

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727897(A;A)
Make rs794727897(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23556427
GeneNPC1
is asnp
is mentioned by
dbSNPrs794727897
ebirs794727897
HLIrs794727897
Exacrs794727897
Varsomers794727897
Maprs794727897
PheGenIrs794727897
hapmaprs794727897
1000 genomesrs794727897
hgdprs794727897
ensemblrs794727897
gopubmedrs794727897
geneviewrs794727897
scholarrs794727897
googlers794727897
pharmgkbrs794727897
gwascentralrs794727897
openSNPrs794727897
23andMers794727897
23andMe allrs794727897
SNP Nexus

SNPshotrs794727897
SNPdbers794727897
MSV3drs794727897
GWAS Ctlgrs794727897
Max Magnitude0
ClinVar
Risk rs794727897(A;A)
Alt rs794727897(A;A)
Reference rs794727897(G;G)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21136391C>T
CLNSRC
CLNACC RCV000180120.1,