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

rs786200878

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786200878(-;-)
Make rs786200878(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23533447
GeneNPC1
is asnp
is mentioned by
dbSNPrs786200878
ebirs786200878
HLIrs786200878
Exacrs786200878
Varsomers786200878
Maprs786200878
PheGenIrs786200878
hapmaprs786200878
1000 genomesrs786200878
hgdprs786200878
ensemblrs786200878
gopubmedrs786200878
geneviewrs786200878
scholarrs786200878
googlers786200878
pharmgkbrs786200878
gwascentralrs786200878
openSNPrs786200878
23andMers786200878
23andMe allrs786200878
SNP Nexus

SNPshotrs786200878
SNPdbers786200878
MSV3drs786200878
GWAS Ctlgrs786200878
Max Magnitude0
ClinVar
Risk rs786200878(;)
Alt rs786200878(;)
Reference rs786200878(T;T)
Significance Pathogenic
Disease Niemann-Pick disease type C1
Variation info
Gene C18orf8 NPC1
CLNDBN Niemann-Pick disease type C1
Reversed 1
HGVS NC_000018.9:g.21113411delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003111.3,