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rs120074118(CGC;CGC)

From SNPedia
common in clinvar
Is agenotype
ofrs120074118
GeneSMPD1
Chromosome11
Position6,394,539
Merged fromRs794727780
mentionedby
Magnitude0
ReputeGood
Geno Mag Summary
(-;CGC) 3 Carrier of a Niemann-Pick disease type A mutation
(CGC;CGC) 0 common in clinvar
(GCC;GCC) 0 common in clinvar
(I;I) 0 common genotype