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rs104895105(C;T)

From SNPedia
(Redirected from I5008343(A;G))

Carrier of a familial mediterranean fever mutation
Is agenotype
ofrs104895105
GeneMEFV
Chromosome16
Position3,247,171
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a familial mediterranean fever mutation

Familial Mediterranean Fever mutation carrier; unaffected unless a second MEFV gene mutation is present.