rs726070(A;A)
From SNPedia
Two copies of a variant now thought likely to benign |
Is a | genotype |
of | rs726070 |
Gene | ABCA12, LOC101928103 |
Chromosome | 2 |
Position | 214,948,607 |
mentioned | by |
Magnitude | 1 |
Geno | Mag | Summary |
---|---|---|
(A;A) | 1 | Two copies of a variant now thought likely to benign |
(A;G) | 1 | Carrier of a variant now thought likely to be benign |
(G;G) | 0 | common in clinvar |
Over a decade ago, the variant allele was considered a recessive mutation associated with a form of ichthyosis; the current consensus is that it's actually likely to be benign.