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rs1057516403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057516403(-;-)
Make rs1057516403(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6394496
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516403
dbSNP (old)rs1057516403
ClinGenrs1057516403
ebirs1057516403
HLIrs1057516403
Exacrs1057516403
Gnomadrs1057516403
Varsomers1057516403
Maprs1057516403
PheGenIrs1057516403
Biobankrs1057516403
1000 genomesrs1057516403
hgdprs1057516403
ensemblrs1057516403
gopubmedrs1057516403
geneviewrs1057516403
scholarrs1057516403
googlers1057516403
pharmgkbrs1057516403
gwascentralrs1057516403
openSNPrs1057516403
23andMers1057516403
23andMe allrs1057516403
SNPshotrs1057516403
SNPdbers1057516403
MSV3drs1057516403
GWAS Ctlgrs1057516403
Max Magnitude0
ClinVar
Risk rs1057516403(-;-)
Alt rs1057516403(-;-)
Reference Rs1057516403(TT;TT)
Significance Pathogenic
Disease Niemann-Pick disease not provided
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A not provided
Reversed 0
HGVS NC_000011.9:g.6415726_6415727delTT
CLNSRC
CLNACC RCV000411063.1, RCV000412887.1,