rs61761869(A;G)
From SNPedia
Likely carrier of SERPINA1 mutation; slight chance of Alpha-1 Antitrypsin Deficiency? |
Is a | genotype |
of | rs61761869 |
Gene | SERPINA1 |
Chromosome | 14 |
Position | 94,378,529 |
mentioned | by |
Magnitude | 2.5 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 3.1 | Possible Alpha-1 Antrypsin deficiency genotype |
(A;G) | 2.5 | Likely carrier of SERPINA1 mutation; slight chance of Alpha-1 Antitrypsin Deficiency? |
(G;G) | 0 | common in clinvar |
Likely to be unaffected in absence of a second SERPINA1 mutation; the (A) allele is described as a pathogenic allele by (only) one submitter to ClinVar; see rs61761869