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rs200444084

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200444084(C;T)
Make rs200444084(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23534480
GeneNPC1
is asnp
is mentioned by
dbSNPrs200444084
ebirs200444084
HLIrs200444084
Exacrs200444084
Varsomers200444084
Maprs200444084
PheGenIrs200444084
hapmaprs200444084
1000 genomesrs200444084
hgdprs200444084
ensemblrs200444084
gopubmedrs200444084
geneviewrs200444084
scholarrs200444084
googlers200444084
pharmgkbrs200444084
gwascentralrs200444084
openSNPrs200444084
23andMers200444084
23andMe allrs200444084
SNP Nexus

SNPshotrs200444084
SNPdbers200444084
MSV3drs200444084
GWAS Ctlgrs200444084
Max Magnitude0
ClinVar
Risk rs200444084(T;T)
Alt rs200444084(T;T)
Reference rs200444084(C;C)
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.21114444C>T
CLNSRC
CLNACC RCV000169602.1,