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rs121917746(C;T)

From SNPedia
Carrier of a SPR deficiency mutation
Is agenotype
ofrs121917746
GeneSPR
Chromosome2
Position72,888,364
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a SPR deficiency mutation

Unaffected in absence of a second mutation in the SPR gene; see links via main rs-page.