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rs1057516483

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516483(C;T)
Make rs1057516483(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6391753
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516483
dbSNP (old)rs1057516483
ClinGenrs1057516483
ebirs1057516483
HLIrs1057516483
Exacrs1057516483
Gnomadrs1057516483
Varsomers1057516483
Maprs1057516483
PheGenIrs1057516483
Biobankrs1057516483
1000 genomesrs1057516483
hgdprs1057516483
ensemblrs1057516483
gopubmedrs1057516483
geneviewrs1057516483
scholarrs1057516483
googlers1057516483
pharmgkbrs1057516483
gwascentralrs1057516483
openSNPrs1057516483
23andMers1057516483
23andMe allrs1057516483
SNPshotrs1057516483
SNPdbers1057516483
MSV3drs1057516483
GWAS Ctlgrs1057516483
Max Magnitude0
ClinVar
Risk rs1057516483(T;T)
Alt rs1057516483(T;T)
Reference Rs1057516483(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.6412983C>T
CLNSRC
CLNACC RCV000409293.1,