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rs1057516432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs1057516432(-;-)
Make rs1057516432(-;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6393269
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516432
dbSNP (old)rs1057516432
ClinGenrs1057516432
ebirs1057516432
HLIrs1057516432
Exacrs1057516432
Gnomadrs1057516432
Varsomers1057516432
LitVarrs1057516432
Maprs1057516432
PheGenIrs1057516432
Biobankrs1057516432
1000 genomesrs1057516432
hgdprs1057516432
ensemblrs1057516432
gopubmedrs1057516432
geneviewrs1057516432
scholarrs1057516432
googlers1057516432
pharmgkbrs1057516432
gwascentralrs1057516432
openSNPrs1057516432
23andMers1057516432
23andMe allrs1057516432
SNPshotrs1057516432
SNPdbers1057516432
MSV3drs1057516432
GWAS Ctlgrs1057516432
Max Magnitude0
ClinVar
Risk rs1057516432(-;-)
Alt rs1057516432(-;-)
Reference Rs1057516432(TC;TC)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6414499_6414500delTC
CLNSRC
CLNACC RCV000411726.1,