Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs17367504 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 9 | ||
rs13306560 | 1.000 | 0.040 | 1 | 11806126 | 5 prime UTR variant | C/T | snv | 3.7E-02 | 3 | ||
rs17037390 | 1.000 | 0.040 | 1 | 11800786 | non coding transcript exon variant | G/A | snv | 0.18 | 3 | ||
rs145641996 | 1.000 | 0.040 | 1 | 11792285 | missense variant | T/C;G | snv | 1.6E-05; 1.6E-04 | 2 | ||
rs1057519359 | 1.000 | 1 | 11802880 | splice donor variant | C/T | snv | 1 | ||||
rs1057519360 | 1.000 | 1 | 11801220 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | ||
rs1057519361 | 1.000 | 1 | 11796382 | missense variant | G/T | snv | 1 | ||||
rs1057519362 | 1.000 | 1 | 11796324 | frameshift variant | C/- | delins | 1 | ||||
rs1057519363 | 1.000 | 1 | 11792317 | frameshift variant | C/- | del | 1 | ||||
rs1182635980 | 1.000 | 1 | 11800275 | missense variant | C/T | snv | 1 | ||||
rs1199277582 | 1.000 | 0.080 | 1 | 11801296 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs1203757587 | 1.000 | 0.040 | 1 | 11792279 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs121434294 | 1.000 | 1 | 11800251 | stop gained | G/A | snv | 1 | ||||
rs1314498183 | 1.000 | 0.040 | 1 | 11803469 | missense variant | G/A | snv | 4.2E-06 | 1 | ||
rs1374061192 | 1.000 | 0.040 | 1 | 11801186 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||
rs138189536 | 1.000 | 1 | 11802981 | missense variant | G/A | snv | 2.0E-04 | 7.7E-05 | 1 | ||
rs142884651 | 1.000 | 0.080 | 1 | 11786327 | 3 prime UTR variant | G/A | snv | 1 | |||
rs1430872491 | 1.000 | 1 | 11794735 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | ||
rs144508139 | 1.000 | 1 | 11791244 | missense variant | G/A | snv | 1.6E-05 | 1 | |||
rs150963282 | 1.000 | 0.080 | 1 | 11800285 | synonymous variant | G/T | snv | 9.9E-05 | 1.9E-04 | 1 | |
rs1553187509 | 1.000 | 1 | 11801399 | missense variant | C/A | snv | 1 | ||||
rs1553188112 | 1.000 | 1 | 11803156 | 5 prime UTR variant | AG/- | del | 1 | ||||
rs1557761665 | 1.000 | 1 | 11794437 | frameshift variant | -/C | delins | 1 | ||||
rs17375901 | 1.000 | 0.080 | 1 | 11792459 | intron variant | C/T | snv | 4.6E-02 | 1 | ||
rs17421511 | 1.000 | 0.040 | 1 | 11797731 | intron variant | G/A | snv | 0.13 | 1 |