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rs777286835

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs777286835(A;A)
Make rs777286835(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23543487
GeneNPC1
is asnp
is mentioned by
dbSNPrs777286835
ebirs777286835
HLIrs777286835
Exacrs777286835
Varsomers777286835
Maprs777286835
PheGenIrs777286835
hapmaprs777286835
1000 genomesrs777286835
hgdprs777286835
ensemblrs777286835
gopubmedrs777286835
geneviewrs777286835
scholarrs777286835
googlers777286835
pharmgkbrs777286835
gwascentralrs777286835
openSNPrs777286835
23andMers777286835
23andMe allrs777286835
SNP Nexus

SNPshotrs777286835
SNPdbers777286835
MSV3drs777286835
GWAS Ctlgrs777286835
Max Magnitude0
ClinVar
Risk rs777286835(A,T;A,T)
Alt rs777286835(A,T;A,T)
Reference rs777286835(G;G)
Significance Probable-Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 0
HGVS NC_000018.9:g.21123451G>T
CLNSRC
CLNACC RCV000197375.1,