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rs1057516931

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516931(C;T)
Make rs1057516931(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6390797
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057516931
dbSNP (old)rs1057516931
ClinGenrs1057516931
ebirs1057516931
HLIrs1057516931
Exacrs1057516931
Gnomadrs1057516931
Varsomers1057516931
Maprs1057516931
PheGenIrs1057516931
Biobankrs1057516931
1000 genomesrs1057516931
hgdprs1057516931
ensemblrs1057516931
gopubmedrs1057516931
geneviewrs1057516931
scholarrs1057516931
googlers1057516931
pharmgkbrs1057516931
gwascentralrs1057516931
openSNPrs1057516931
23andMers1057516931
23andMe allrs1057516931
SNPshotrs1057516931
SNPdbers1057516931
MSV3drs1057516931
GWAS Ctlgrs1057516931
Max Magnitude0
ClinVar
Risk rs1057516931(T;T)
Alt rs1057516931(T;T)
Reference Rs1057516931(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.6412027C>T
CLNSRC
CLNACC RCV000412017.1,