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rs1057516454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516454(G;T)
Make rs1057516454(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6393616
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516454
dbSNP (old)rs1057516454
ClinGenrs1057516454
ebirs1057516454
HLIrs1057516454
Exacrs1057516454
Gnomadrs1057516454
Varsomers1057516454
LitVarrs1057516454
Maprs1057516454
PheGenIrs1057516454
Biobankrs1057516454
1000 genomesrs1057516454
hgdprs1057516454
ensemblrs1057516454
gopubmedrs1057516454
geneviewrs1057516454
scholarrs1057516454
googlers1057516454
pharmgkbrs1057516454
gwascentralrs1057516454
openSNPrs1057516454
23andMers1057516454
23andMe allrs1057516454
SNPshotrs1057516454
SNPdbers1057516454
MSV3drs1057516454
GWAS Ctlgrs1057516454
Max Magnitude0
ClinVar
Risk rs1057516454(A;A) rs1057516454(T;T)
Alt rs1057516454(A;A) rs1057516454(T;T)
Reference Rs1057516454(G;G)
Significance Pathogenic
Disease not provided Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN not provided Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6414846G>A; NC_000011.9:g.6414846G>T
CLNSRC
CLNACC RCV000443668.1, RCV000411029.1,