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rs104894212(G;T)

From SNPedia
Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation
Is agenotype
ofrs104894212
GeneDHCR7
Chromosome11
Position71,438,966
Merged fromRs28939698
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation

see Smith-Lemli-Opitz syndrome