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rs730880963

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880963(C;T)
Make rs730880963(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23539829
GeneNPC1
is asnp
is mentioned by
dbSNPrs730880963
ebirs730880963
HLIrs730880963
Exacrs730880963
Varsomers730880963
Maprs730880963
PheGenIrs730880963
hapmaprs730880963
1000 genomesrs730880963
hgdprs730880963
ensemblrs730880963
gopubmedrs730880963
geneviewrs730880963
scholarrs730880963
googlers730880963
pharmgkbrs730880963
gwascentralrs730880963
openSNPrs730880963
23andMers730880963
23andMe allrs730880963
SNP Nexus

SNPshotrs730880963
SNPdbers730880963
MSV3drs730880963
GWAS Ctlgrs730880963
Max Magnitude0
ClinVar
Risk rs730880963(T;T)
Alt rs730880963(T;T)
Reference rs730880963(C;C)
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.21119793G>A
CLNSRC
CLNACC RCV000158971.1,