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rs373940701

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373940701(C;T)
Make rs373940701(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6394459
GeneSMPD1
is asnp
is mentioned by
dbSNPrs373940701
dbSNP (classic)rs373940701
ClinGenrs373940701
ebirs373940701
HLIrs373940701
Exacrs373940701
Gnomadrs373940701
Varsomers373940701
LitVarrs373940701
Maprs373940701
PheGenIrs373940701
Biobankrs373940701
1000 genomesrs373940701
hgdprs373940701
ensemblrs373940701
geneviewrs373940701
scholarrs373940701
googlers373940701
pharmgkbrs373940701
gwascentralrs373940701
openSNPrs373940701
23andMers373940701
23andMe allrs373940701
SNPshotrs373940701
SNPdbers373940701
MSV3drs373940701
GWAS Ctlgrs373940701
Max Magnitude0
ClinVar
Risk rs373940701(A;A) rs373940701(T;T)
Alt rs373940701(A;A) rs373940701(T;T)
Reference Rs373940701(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.6415689C>A
CLNSRC
CLNACC RCV000411576.1,