Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs229811 | 1.000 | 0.040 | 14 | 83448259 | intergenic variant | G/C | snv | 4.4E-02 | 1 | ||
rs1034220998 | 1.000 | 0.040 | 1 | 6339497 | synonymous variant | G/A | snv | 1 | |||
rs368731455 | 1.000 | 0.040 | 1 | 6281212 | missense variant | C/T | snv | 2.0E-05 | 1 | ||
rs758821654 | 1.000 | 0.040 | 1 | 6339437 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs765693356 | 1.000 | 0.040 | 1 | 6339527 | synonymous variant | G/A | snv | 1.2E-05 | 1 | ||
rs1257821596 | 1.000 | 0.040 | 20 | 3083027 | frameshift variant | -/C | delins | 7.0E-06 | 1 | ||
rs1308193541 | 1.000 | 0.040 | 21 | 43066312 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs3213182 | 1.000 | 0.040 | 20 | 33675427 | upstream gene variant | A/C | snv | 7.2E-02 | 1 | ||
rs3213183 | 1.000 | 0.040 | 20 | 33675156 | intron variant | G/A;C | snv | 1 | |||
rs3218203 | 1.000 | 0.040 | 1 | 23511068 | intron variant | C/A;G | snv | 1 | |||
rs3218211 | 1.000 | 0.040 | 1 | 23509302 | 3 prime UTR variant | A/G | snv | 0.48 | 1 | ||
rs6667575 | 1.000 | 0.040 | 1 | 23533029 | upstream gene variant | G/A | snv | 0.22 | 1 | ||
rs121913433 | 1.000 | 0.040 | 7 | 55174771 | missense variant | A/G | snv | 1 | |||
rs1256743514 | 1.000 | 0.040 | 7 | 55191728 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs6970262 | 1.000 | 0.040 | 7 | 55192070 | intron variant | A/G | snv | 0.66 | 1 | ||
rs845561 | 1.000 | 0.040 | 7 | 55185015 | intron variant | C/T | snv | 0.76 | 1 | ||
rs4075349 | 1.000 | 0.040 | 4 | 57110791 | non coding transcript exon variant | C/T | snv | 0.49 | 1 | ||
rs11573014 | 1.000 | 0.040 | 4 | 57111075 | non coding transcript exon variant | C/G | snv | 0.12 | 1 | ||
rs121909250 | 1.000 | 0.040 | 13 | 110719736 | missense variant | G/C | snv | 1 | |||
rs121909251 | 1.000 | 0.040 | 13 | 110719739 | missense variant | A/G | snv | 1 | |||
rs121909252 | 1.000 | 0.040 | 13 | 110719667 | missense variant | C/A | snv | 1 | |||
rs17084687 | 1.000 | 0.040 | 4 | 54716231 | intron variant | C/T | snv | 0.11 | 1 | ||
rs6554198 | 1.000 | 0.040 | 4 | 54655993 | upstream gene variant | G/A;T | snv | 1 | |||
rs3218148 | 1.000 | 0.040 | 1 | 23525295 | intron variant | G/A;C;T | snv | 1 | |||
rs6581580 | 1.000 | 0.040 | 12 | 64609189 | intron variant | T/C;G | snv | 0.45 | 1 |