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rs1057516949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGA;CTGA) 0 common in clinvar
Make rs1057516949(-;-)
Make rs1057516949(-;GACT)
Make rs1057516949(GACT;GACT)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6390749
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516949
dbSNP (old)rs1057516949
ClinGenrs1057516949
ebirs1057516949
HLIrs1057516949
Exacrs1057516949
Gnomadrs1057516949
Varsomers1057516949
Maprs1057516949
PheGenIrs1057516949
Biobankrs1057516949
1000 genomesrs1057516949
hgdprs1057516949
ensemblrs1057516949
gopubmedrs1057516949
geneviewrs1057516949
scholarrs1057516949
googlers1057516949
pharmgkbrs1057516949
gwascentralrs1057516949
openSNPrs1057516949
23andMers1057516949
23andMe allrs1057516949
SNPshotrs1057516949
SNPdbers1057516949
MSV3drs1057516949
GWAS Ctlgrs1057516949
Max Magnitude0
ClinVar
Risk rs1057516949(-;-)
Alt rs1057516949(-;-)
Reference Rs1057516949(CTGA;CTGA)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6411979_6411982delGACT
CLNSRC
CLNACC RCV000411564.1,