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rs370129081

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370129081(A;A)
Make rs370129081(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6394516
GeneSMPD1
is asnp
is mentioned by
dbSNPrs370129081
ebirs370129081
HLIrs370129081
Exacrs370129081
Varsomers370129081
Maprs370129081
PheGenIrs370129081
hapmaprs370129081
1000 genomesrs370129081
hgdprs370129081
ensemblrs370129081
gopubmedrs370129081
geneviewrs370129081
scholarrs370129081
googlers370129081
pharmgkbrs370129081
gwascentralrs370129081
openSNPrs370129081
23andMers370129081
23andMe allrs370129081
SNP Nexus

SNPshotrs370129081
SNPdbers370129081
MSV3drs370129081
GWAS Ctlgrs370129081
Max Magnitude0
ClinVar
Risk rs370129081(A;A)
Alt rs370129081(A;A)
Reference rs370129081(G;G)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415746G>A
CLNSRC
CLNACC RCV000169329.1,