rs28931610(T;T)
From SNPedia
carrier of a skin fragility/woolly hair syndrome allele |
Is a | genotype |
of | rs28931610 |
Gene | DSP |
Chromosome | 6 |
Position | 7,584,358 |
mentioned | by |
Magnitude | 6 |
Repute | Bad |
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.