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rs1057517345

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs1057517345(CC;G)
Make rs1057517345(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6392059
GeneSMPD1
is asnp
is mentioned by
dbSNPrs1057517345
dbSNP (old)rs1057517345
ClinGenrs1057517345
ebirs1057517345
HLIrs1057517345
Exacrs1057517345
Gnomadrs1057517345
Varsomers1057517345
Maprs1057517345
PheGenIrs1057517345
Biobankrs1057517345
1000 genomesrs1057517345
hgdprs1057517345
ensemblrs1057517345
gopubmedrs1057517345
geneviewrs1057517345
scholarrs1057517345
googlers1057517345
pharmgkbrs1057517345
gwascentralrs1057517345
openSNPrs1057517345
23andMers1057517345
23andMe allrs1057517345
SNPshotrs1057517345
SNPdbers1057517345
MSV3drs1057517345
GWAS Ctlgrs1057517345
Max Magnitude0
ClinVar
Risk rs1057517345(G;G)
Alt rs1057517345(G;G)
Reference Rs1057517345(CC;CC)
Significance Probable-Pathogenic
Disease Niemann-Pick disease
Variation info
Gene SMPD1
CLNDBN Niemann-Pick disease, type A
Reversed 0
HGVS NC_000011.9:g.6413289_6413290delCCinsG
CLNSRC
CLNACC RCV000409737.1,