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

rs1057516854

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516854(A;A)
Make rs1057516854(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6393895
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516854
dbSNP (old)rs1057516854
ClinGenrs1057516854
ebirs1057516854
HLIrs1057516854
Exacrs1057516854
Gnomadrs1057516854
Varsomers1057516854
LitVarrs1057516854
Maprs1057516854
PheGenIrs1057516854
Biobankrs1057516854
1000 genomesrs1057516854
hgdprs1057516854
ensemblrs1057516854
gopubmedrs1057516854
geneviewrs1057516854
scholarrs1057516854
googlers1057516854
pharmgkbrs1057516854
gwascentralrs1057516854
openSNPrs1057516854
23andMers1057516854
23andMe allrs1057516854
SNPshotrs1057516854
SNPdbers1057516854
MSV3drs1057516854
GWAS Ctlgrs1057516854
Max Magnitude0
ClinVar
Risk rs1057516854(A;A) rs1057516854(T;T)
Alt rs1057516854(A;A) rs1057516854(T;T)
Reference Rs1057516854(G;G)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6415125G>A; NC_000011.9:g.6415125G>T
CLNSRC
CLNACC RCV000410948.1, RCV000410844.1,