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rs730880964

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880964(A;C)
Make rs730880964(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23534532
GeneNPC1
is asnp
is mentioned by
dbSNPrs730880964
ebirs730880964
HLIrs730880964
Exacrs730880964
Varsomers730880964
Maprs730880964
PheGenIrs730880964
hapmaprs730880964
1000 genomesrs730880964
hgdprs730880964
ensemblrs730880964
gopubmedrs730880964
geneviewrs730880964
scholarrs730880964
googlers730880964
pharmgkbrs730880964
gwascentralrs730880964
openSNPrs730880964
23andMers730880964
23andMe allrs730880964
SNP Nexus

SNPshotrs730880964
SNPdbers730880964
MSV3drs730880964
GWAS Ctlgrs730880964
Max Magnitude0
ClinVar
Risk rs730880964(C;C)
Alt rs730880964(C;C)
Reference rs730880964(A;A)
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.21114496T>G
CLNSRC
CLNACC RCV000158974.1,