GENE | rs | Exon | Codon | TYPE | EFFECT | SIFT | POLYPHEN | Accession | Number of family | MAF (ExAC) | NUCLEOTIDE | ChR | POSITION | DEPTH mini |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHA2 | rs139787163 | 3 | 959 | missense | Ala959Thr | 0,05 | 0,828 | NM_004431.3 | Family X | 0.000346 | Gcc/Acc | 1 | 16,451,766 | 48 |
EPHA2 | rs150790360 | 3 | 165 | missense | Val165met | 0 | 0,062 | NM_004431 | 1 | 0.001535 | Gtg/Atg | 1 | 16,475,203 | 157 |
EPHA2 | rs139787163 | 17 | 959 | missense | Ala959Thr | 0,05 | 0,828 | NM_004431 | 1 | 0.000346 | Gcc/Acc | 1 | 16,451,766 | 48 |
KALRN | rs56407180 | 1 | 10 | nonsense | Arg10ter | STOP | GAIN | NM_007064.3 | Family X | 0.002382 | c.28C > T | 3 | 124,303,696 | 528 |
KALRN | rs35298864 | 38 | 1930 | missense | Arg1930Met | 0 | 0,891 | NM_001024660 | 1 | 0.007276 | aGg/aTg | 3 | 124,369,782 | 178 |
IL17RA | rs140221307 | 11 | 320 | missense | Trp320Arg | 0 | 0,972 | NM_014339.6 | Family X | 0.001801 | c.958 T > C | 22 | 17,586,757 | 370 |
IL17RA | rs41323645 | 13 | 691 | missense | Ala691Thr | 0,35 | 0,926 | NM_014339.6 | 1 | 0.3023 | c.2071G > A | 22 | 17,590,180 | 160 |
Additional informations on IL17R | ||||||||||||||
IL17RB | rs2232346 | 9 | 278 | missense | Phe278Leu | 0,65 | 0 | NM_018725.3 | Family X | 0.01915 | c.832 T > C | 3 | 53,892,830 | 141 |
IL17RC | nd | 6 | nd | splice donor | frameshift | splicing | defect | 1 | nd | c.790 + 1G > T | 3 | 9,962,287 | 155 |