Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057517092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517092(-;-)
Make rs1057517092(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6391646
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057517092
dbSNP (old)rs1057517092
ClinGenrs1057517092
ebirs1057517092
HLIrs1057517092
Exacrs1057517092
Gnomadrs1057517092
Varsomers1057517092
LitVarrs1057517092
Maprs1057517092
PheGenIrs1057517092
Biobankrs1057517092
1000 genomesrs1057517092
hgdprs1057517092
ensemblrs1057517092
gopubmedrs1057517092
geneviewrs1057517092
scholarrs1057517092
googlers1057517092
pharmgkbrs1057517092
gwascentralrs1057517092
openSNPrs1057517092
23andMers1057517092
23andMe allrs1057517092
SNPshotrs1057517092
SNPdbers1057517092
MSV3drs1057517092
GWAS Ctlgrs1057517092
Max Magnitude0
ClinVar
Risk rs1057517092(-;-)
Alt rs1057517092(-;-)
Reference Rs1057517092(C;C)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6412876delC
CLNSRC
CLNACC RCV000411552.1,