Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913428 | 0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv | 4 | |||
rs121913444 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 3 | |||
rs28929495 | 0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv | 3 | |||
rs121913465 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 3 | |||
rs121913229 | 0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 | 2 | ||
rs150036236 | 0.925 | 0.080 | 7 | 55191741 | missense variant | G/A | snv | 4.8E-05 | 3.5E-05 | 2 | |
rs397517097 | 0.851 | 0.080 | 7 | 55174777 | missense variant | T/C | snv | 2 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 1 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 1 | |||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 1 | |||
rs121913418 | 0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv | 1 | |||
rs139429793 | 0.925 | 0.120 | 7 | 55155928 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 1 | |
rs146795390 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs1554350382 | 1.000 | 0.040 | 7 | 55181318 | protein altering variant | -/GTC | ins | 1 | |||
rs397517108 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 1 |