Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121918083 | 1.000 | 0.120 | 18 | 31592914 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs121918094 | 0.827 | 0.280 | 18 | 31592921 | missense variant | T/C | snv | 1 | |||
rs1567945632 | 1.000 | 0.120 | 18 | 31592938 | missense variant | G/A | snv | 1 | |||
rs121918098 | 0.807 | 0.200 | 18 | 31592939 | missense variant | A/G | snv | 2 | |||
rs121918093 | 0.882 | 0.200 | 18 | 31592944 | missense variant | G/A;C | snv | 4.0E-06 | 1 | ||
rs11541790 | 1.000 | 0.120 | 18 | 31592956 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs104894664 | 0.882 | 0.120 | 18 | 31592959 | missense variant | G/A | snv | 1 | |||
rs28933979 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 4 | ||
rs79977247 | 0.776 | 0.200 | 18 | 31592975 | missense variant | T/C;G | snv | 2 | |||
rs121918068 | 0.882 | 0.200 | 18 | 31592983 | missense variant | T/A;C | snv | 1 | |||
rs121918077 | 0.882 | 0.120 | 18 | 31592992 | missense variant | G/C | snv | 1 | |||
rs11541796 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 1 | |||
rs104894665 | 0.851 | 0.120 | 18 | 31593017 | missense variant | T/C | snv | 2 | |||
rs387906523 | 0.882 | 0.160 | 18 | 31593025 | missense variant | G/A;C | snv | 1 | |||
rs121918090 | 0.790 | 0.240 | 18 | 31593026 | missense variant | G/C | snv | 1 | |||
rs121918081 | 0.925 | 0.200 | 18 | 31595124 | missense variant | A/G | snv | 1 | |||
rs1555631387 | 1.000 | 0.120 | 18 | 31595125 | missense variant | C/G | snv | 1 | |||
rs386134269 | 0.882 | 0.120 | 18 | 31595127 | missense variant | A/C;G | snv | 1 | |||
rs1555631390 | 0.851 | 0.160 | 18 | 31595128 | inframe insertion | -/AGTCTG | delins | 4 | |||
rs121918080 | 0.827 | 0.240 | 18 | 31595128 | missense variant | G/A;T | snv | 2.4E-05 | 1 | ||
rs121918076 | 0.882 | 0.120 | 18 | 31595129 | missense variant | T/A;C;G | snv | 1 | |||
rs121918097 | 0.790 | 0.280 | 18 | 31595137 | missense variant | G/A | snv | 1 | |||
rs121918079 | 0.790 | 0.280 | 18 | 31595143 | missense variant | T/C | snv | 1 | |||
rs121918069 | 0.925 | 0.200 | 18 | 31595152 | missense variant | T/A;G | snv | 1 | |||
rs121918070 | 1.000 | 0.120 | 18 | 31595157 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 2 |