Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121908855 | 1.000 | 0.160 | 7 | 21880869 | stop gained | C/G | snv | 6.1E-05 | 2.8E-05 | 2 | |
rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
rs368260932 | 1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 | 2 | |
rs373844629 | 1.000 | 0.160 | 7 | 21690844 | stop gained | C/T | snv | 8.1E-06 | 1.4E-05 | 2 | |
rs775720394 | 1.000 | 0.160 | 7 | 21899355 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 2 | ||
rs797045085 | 1.000 | 0.160 | 7 | 21749750 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
rs1178187217 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 38 | ||
rs1554294478 | 1.000 | 0.160 | 7 | 21901225 | stop lost | GCTCTGCTTCTAGAAGCGTAAGGTAACACTGGCATTCCTCTAGCCTCTGCTGGAGTG/- | delins | 2 |