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rs104895094(A;G)

From SNPedia
(Redirected from I4000408(C;T))

Carrier of a familial mediterranean fever mutation
Is agenotype
ofrs104895094
GeneMEFV
Chromosome16
Position3,243,403
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 5 Familial Mediterranean Fever, autosomal recessive
(A;G) 3 Carrier of a familial mediterranean fever mutation

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