Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs12627970 | 1.000 | 0.080 | 22 | 39325740 | TF binding site variant | A/G | snv | 0.19 | 2 | ||
rs5757611 | 1.000 | 0.080 | 22 | 39312352 | downstream gene variant | C/T | snv | 0.19 | 2 | ||
rs909685 | 0.925 | 0.200 | 22 | 39351666 | intron variant | T/A | snv | 0.37 | 2 | ||
rs968451 | 0.925 | 0.080 | 22 | 39274846 | intron variant | G/T | snv | 0.18 | 2 | ||
rs1003643 | 1.000 | 0.080 | 22 | 39280489 | downstream gene variant | T/G | snv | 0.34 | 1 | ||
rs1003644 | 1.000 | 0.080 | 22 | 39280739 | downstream gene variant | G/A | snv | 0.31 | 1 | ||
rs137603 | 1.000 | 0.080 | 22 | 39298220 | downstream gene variant | A/C | snv | 0.50 | 1 | ||
rs2014842 | 1.000 | 0.080 | 22 | 39313004 | non coding transcript exon variant | G/A | snv | 0.23 | 0.16 | 1 | |
rs2049985 | 1.000 | 0.080 | 22 | 39360645 | intron variant | G/C;T | snv | 0.21 | 1 | ||
rs2069235 | 1.000 | 0.080 | 22 | 39351775 | intron variant | G/A;T | snv | 1 | |||
rs2076125 | 1.000 | 0.080 | 22 | 39315346 | intron variant | A/G | snv | 0.27 | 0.19 | 1 | |
rs2267407 | 1.000 | 0.080 | 22 | 39351045 | intron variant | G/A | snv | 0.21 | 1 | ||
rs397723 | 1.000 | 0.080 | 22 | 47717041 | intron variant | G/A;T | snv | 1 | |||
rs5757618 | 1.000 | 0.080 | 22 | 39328546 | regulatory region variant | A/T | snv | 0.19 | 1 | ||
rs5757628 | 1.000 | 0.080 | 22 | 39353976 | intron variant | G/A | snv | 0.21 | 1 | ||
rs61616683 | 1.000 | 0.080 | 22 | 39359768 | intron variant | C/T | snv | 0.21 | 1 | ||
rs715505 | 1.000 | 0.080 | 22 | 39355246 | intron variant | G/C | snv | 0.21 | 1 | ||
rs121434254 | 0.807 | 0.200 | 21 | 44289773 | stop gained | C/A;T | snv | 7.5E-04 | 6 | ||
rs2838519 | 0.851 | 0.280 | 21 | 44195140 | intron variant | G/A;C | snv | 4 | |||
rs2832438 | 1.000 | 0.080 | 21 | 29765618 | intron variant | T/C | snv | 0.20 | 1 | ||
rs1015092 | 1.000 | 0.080 | 20 | 8769415 | intron variant | A/G;T | snv | 1 | |||
rs2327089 | 1.000 | 0.080 | 20 | 8788533 | splice region variant | C/T | snv | 0.95 | 0.90 | 1 | |
rs2327101 | 1.000 | 0.080 | 20 | 8753616 | intron variant | A/G | snv | 0.92 | 1 | ||
rs4053148 | 1.000 | 0.080 | 20 | 8791897 | intron variant | A/G;T | snv | 1 |