rs137854450(C;T)
From SNPedia
Severe congenital neutropenia, type 1, autosomal dominant |
Is a | genotype |
of | rs137854450 |
Gene | ELANE |
Chromosome | 19 |
Position | 855,574 |
mentioned | by |
Magnitude | 8.2 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 8.2 | Severe congenital neutropenia, type 1, autosomal dominant |
see links at rs137854450. Early warning: preliminary statistics as of November 2018 indicate that the Ancestry v2c chip may be prone to false positives for this genotype, however, this needs to be revisited once more data has accumulated.