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rs1057517098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517098(-;-)
Make rs1057517098(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6390791
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057517098
dbSNP (old)rs1057517098
ClinGenrs1057517098
ebirs1057517098
HLIrs1057517098
Exacrs1057517098
Gnomadrs1057517098
Varsomers1057517098
Maprs1057517098
PheGenIrs1057517098
Biobankrs1057517098
1000 genomesrs1057517098
hgdprs1057517098
ensemblrs1057517098
gopubmedrs1057517098
geneviewrs1057517098
scholarrs1057517098
googlers1057517098
pharmgkbrs1057517098
gwascentralrs1057517098
openSNPrs1057517098
23andMers1057517098
23andMe allrs1057517098
SNPshotrs1057517098
SNPdbers1057517098
MSV3drs1057517098
GWAS Ctlgrs1057517098
Max Magnitude0
ClinVar
Risk rs1057517098(-;-)
Alt rs1057517098(-;-)
Reference Rs1057517098(T;T)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6412021delT
CLNSRC
CLNACC RCV000410343.1,