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rs74435397(A;G)

From SNPedia
Carrier of a mutation for Bowen-Conradi syndrome
Is agenotype
ofrs74435397
GeneEMG1
Chromosome12
Position6,974,427
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a mutation for Bowen-Conradi syndrome
(G;G) 9 Bowen-Conradi syndrome (predicted)

Unaffected in absence of another EMG1 gene mutation; see discussion and links via rs74435397.