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rs863224902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863224902(-;ATTT)
Make rs863224902(ATTT;ATTT)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position23536680
GeneNPC1
is asnp
is mentioned by
dbSNPrs863224902
dbSNP (old)rs863224902
ClinGenrs863224902
ebirs863224902
HLIrs863224902
Exacrs863224902
Gnomadrs863224902
Varsomers863224902
Maprs863224902
PheGenIrs863224902
Biobankrs863224902
1000 genomesrs863224902
hgdprs863224902
ensemblrs863224902
gopubmedrs863224902
geneviewrs863224902
scholarrs863224902
googlers863224902
pharmgkbrs863224902
gwascentralrs863224902
openSNPrs863224902
23andMers863224902
23andMe allrs863224902
SNP Nexus

SNPshotrs863224902
SNPdbers863224902
MSV3drs863224902
GWAS Ctlgrs863224902
Max Magnitude0
ClinVar
Risk rs863224902(ATTT;ATTT)
Alt rs863224902(ATTT;ATTT)
Reference Rs863224902(-;-)
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.21116645_21116648dupAAAT
CLNSRC
CLNACC RCV000197375.1,