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rs1057517086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057517086(-;-)
Make rs1057517086(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6391484
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057517086
dbSNP (old)rs1057517086
ClinGenrs1057517086
ebirs1057517086
HLIrs1057517086
Exacrs1057517086
Gnomadrs1057517086
Varsomers1057517086
LitVarrs1057517086
Maprs1057517086
PheGenIrs1057517086
Biobankrs1057517086
1000 genomesrs1057517086
hgdprs1057517086
ensemblrs1057517086
gopubmedrs1057517086
geneviewrs1057517086
scholarrs1057517086
googlers1057517086
pharmgkbrs1057517086
gwascentralrs1057517086
openSNPrs1057517086
23andMers1057517086
23andMe allrs1057517086
SNPshotrs1057517086
SNPdbers1057517086
MSV3drs1057517086
GWAS Ctlgrs1057517086
Max Magnitude0
ClinVar
Risk rs1057517086(-;-)
Alt rs1057517086(-;-)
Reference Rs1057517086(TT;TT)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6412714_6412715delTT
CLNSRC
CLNACC RCV000410791.1,