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rs1057516722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516722(A;A)
Make rs1057516722(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6390766
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516722
dbSNP (old)rs1057516722
ClinGenrs1057516722
ebirs1057516722
HLIrs1057516722
Exacrs1057516722
Gnomadrs1057516722
Varsomers1057516722
LitVarrs1057516722
Maprs1057516722
PheGenIrs1057516722
Biobankrs1057516722
1000 genomesrs1057516722
hgdprs1057516722
ensemblrs1057516722
gopubmedrs1057516722
geneviewrs1057516722
scholarrs1057516722
googlers1057516722
pharmgkbrs1057516722
gwascentralrs1057516722
openSNPrs1057516722
23andMers1057516722
23andMe allrs1057516722
SNPshotrs1057516722
SNPdbers1057516722
MSV3drs1057516722
GWAS Ctlgrs1057516722
Max Magnitude0
ClinVar
Risk rs1057516722(A;A)
Alt rs1057516722(A;A)
Reference Rs1057516722(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.6411996G>A
CLNSRC
CLNACC RCV000409195.1,