Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517200

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1057517200(-;-)
Make rs1057517200(-;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6394208
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057517200
dbSNP (old)rs1057517200
ClinGenrs1057517200
ebirs1057517200
HLIrs1057517200
Exacrs1057517200
Gnomadrs1057517200
Varsomers1057517200
Maprs1057517200
PheGenIrs1057517200
Biobankrs1057517200
1000 genomesrs1057517200
hgdprs1057517200
ensemblrs1057517200
gopubmedrs1057517200
geneviewrs1057517200
scholarrs1057517200
googlers1057517200
pharmgkbrs1057517200
gwascentralrs1057517200
openSNPrs1057517200
23andMers1057517200
23andMe allrs1057517200
SNPshotrs1057517200
SNPdbers1057517200
MSV3drs1057517200
GWAS Ctlgrs1057517200
Max Magnitude0
ClinVar
Risk rs1057517200(-;-)
Alt rs1057517200(-;-)
Reference Rs1057517200(GT;GT)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415438_6415439delGT
CLNSRC
CLNACC RCV000411708.1,