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rs139751448

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139751448(C;T)
Make rs139751448(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position23556358
GeneNPC1
is asnp
is mentioned by
dbSNPrs139751448
ebirs139751448
HLIrs139751448
Exacrs139751448
Varsomers139751448
Maprs139751448
PheGenIrs139751448
hapmaprs139751448
1000 genomesrs139751448
hgdprs139751448
ensemblrs139751448
gopubmedrs139751448
geneviewrs139751448
scholarrs139751448
googlers139751448
pharmgkbrs139751448
gwascentralrs139751448
openSNPrs139751448
23andMers139751448
23andMe allrs139751448
SNP Nexus

SNPshotrs139751448
SNPdbers139751448
MSV3drs139751448
GWAS Ctlgrs139751448
Max Magnitude0
ClinVar
Risk rs139751448(T;T)
Alt rs139751448(T;T)
Reference rs139751448(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.21136322C>T
CLNSRC
CLNACC RCV000169124.1,