Table 2.
Chr | POS | rsID | Ref/Alt | Gene | Function | SIFT/CADD | Genotype counts | Allele frequency | p value | ||
---|---|---|---|---|---|---|---|---|---|---|---|
Case (n = 13) | Control (n = 90) | 1KP ASN | ExAC ASN | ||||||||
GG/GA/AA | GG/GA/AA | ||||||||||
chr12 | 9,333,626 | rs117889746 | G/A | PZPa | Stop gain | 0.3/36 | 11/1/1 | 70/20/0 | 0.095 | 0.083 | 0.001 |
aPZP, PZP, alpha-2-macroglobulin like