Have questions? Visit https://www.reddit.com/r/SNPedia

rs753508874

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs753508874(C;T)
Make rs753508874(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6393985
GeneSMPD1
is asnp
is mentioned by
dbSNPrs753508874
ebirs753508874
HLIrs753508874
Exacrs753508874
Varsomers753508874
Maprs753508874
PheGenIrs753508874
hapmaprs753508874
1000 genomesrs753508874
hgdprs753508874
ensemblrs753508874
gopubmedrs753508874
geneviewrs753508874
scholarrs753508874
googlers753508874
pharmgkbrs753508874
gwascentralrs753508874
openSNPrs753508874
23andMers753508874
23andMe allrs753508874
SNP Nexus

SNPshotrs753508874
SNPdbers753508874
MSV3drs753508874
GWAS Ctlgrs753508874
Max Magnitude0
ClinVar
Risk rs753508874(T;T)
Alt rs753508874(T;T)
Reference rs753508874(C;C)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415215C>T
CLNSRC
CLNACC RCV000169478.1,