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rs1057516530

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516530(C;G)
Make rs1057516530(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6394229
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516530
dbSNP (old)rs1057516530
ClinGenrs1057516530
ebirs1057516530
HLIrs1057516530
Exacrs1057516530
Gnomadrs1057516530
Varsomers1057516530
Maprs1057516530
PheGenIrs1057516530
Biobankrs1057516530
1000 genomesrs1057516530
hgdprs1057516530
ensemblrs1057516530
gopubmedrs1057516530
geneviewrs1057516530
scholarrs1057516530
googlers1057516530
pharmgkbrs1057516530
gwascentralrs1057516530
openSNPrs1057516530
23andMers1057516530
23andMe allrs1057516530
SNPshotrs1057516530
SNPdbers1057516530
MSV3drs1057516530
GWAS Ctlgrs1057516530
Max Magnitude0
ClinVar
Risk rs1057516530(G;G)
Alt rs1057516530(G;G)
Reference Rs1057516530(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.6415459C>G
CLNSRC
CLNACC RCV000410839.1,