Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs76992529 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 10 | |
rs1555631390 | 0.851 | 0.160 | 18 | 31595128 | inframe insertion | -/AGTCTG | delins | 4 | |||
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 4 | ||
rs121918091 | 0.882 | 0.200 | 18 | 31595169 | missense variant | T/C | snv | 4.0E-06 | 3 | ||
rs104894665 | 0.851 | 0.120 | 18 | 31593017 | missense variant | T/C | snv | 2 | |||
rs121918070 | 1.000 | 0.120 | 18 | 31595157 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 2 | |
rs121918098 | 0.807 | 0.200 | 18 | 31592939 | missense variant | A/G | snv | 2 | |||
rs121918100 | 0.827 | 0.160 | 18 | 31595184 | missense variant | T/C | snv | 2 | |||
rs79977247 | 0.776 | 0.200 | 18 | 31592975 | missense variant | T/C;G | snv | 2 | |||
rs104894664 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 1 | |||
rs11541790 | 1.000 | 0.120 | 18 | 31592956 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs11541796 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 1 | |||
rs121918068 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 1 | |||
rs121918069 | 0.925 | 0.200 | 18 | 31595152 | missense variant | T/A;G | snv | 1 | |||
rs121918071 | 0.882 | 0.240 | 18 | 31595209 | missense variant | C/A | snv | 1 | |||
rs121918072 | 1.000 | 0.120 | 18 | 31595230 | missense variant | T/G | snv | 1 | |||
rs121918073 | 0.882 | 0.160 | 18 | 31598622 | missense variant | C/A | snv | 1 | |||
rs121918074 | 0.851 | 0.120 | 18 | 31595247 | missense variant | C/A | snv | 6.0E-04 | 3.9E-04 | 1 | |
rs121918075 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 1 | |||
rs121918076 | 0.882 | 0.120 | 18 | 31595129 | missense variant | T/A;C;G | snv | 1 | |||
rs121918077 | 0.882 | 0.120 | 18 | 31592992 | missense variant | G/C | snv | 1 | |||
rs121918079 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 1 | |||
rs121918080 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 1 | ||
rs121918081 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 1 | |||
rs121918082 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 1 |