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rs28931610(T;T)

From SNPedia

carrier of a skin fragility/woolly hair syndrome allele
Is agenotype
ofrs28931610
GeneDSP
Chromosome6
Position7,584,358
mentionedby
Magnitude6
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a skin fragility/woolly hair syndrome allele
(T;T) 6 carrier of a skin fragility/woolly hair syndrome allele

Carrying two copies of the rs28931610(T) allele is reported to lead to skin fragility/woolly hair syndrome; see discussion at rs28931610.