Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1360415315 | 0.851 | 0.080 | 7 | 44149772 | missense variant | C/G;T | snv | 4.0E-06 | 4 | ||
rs137852673 | 0.851 | 0.120 | 11 | 17395915 | missense variant | G/A;T | snv | 5.0E-06; 2.0E-05 | 3 | ||
rs148311934 | 0.827 | 0.080 | 7 | 44149763 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 5 | |
rs1554948310 | 0.827 | 0.160 | 11 | 17474884 | splice donor variant | A/G | snv | 5 | |||
rs193922283 | 0.851 | 0.080 | 7 | 44145176 | missense variant | G/A | snv | 4 | |||
rs193922402 | 0.807 | 0.160 | 11 | 17395611 | stop gained | G/A | snv | 1.3E-05 | 7.0E-06 | 6 | |
rs267607196 | 0.827 | 0.160 | 11 | 17387248 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 5 | |
rs587780345 | 0.851 | 0.080 | 7 | 44150004 | missense variant | C/T | snv | 5 | |||
rs72559715 | 0.827 | 0.160 | 11 | 17394379 | missense variant | C/T | snv | 7.0E-06 | 5 | ||
rs72559722 | 0.807 | 0.160 | 11 | 17412716 | stop gained | G/A | snv | 6.1E-05 | 2.1E-05 | 6 | |
rs72559734 | 0.807 | 0.160 | 11 | 17474955 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 6 | ||
rs769268803 | 0.851 | 0.080 | 7 | 44147747 | missense variant | C/G;T | snv | 4.0E-06 | 4 | ||
rs80356661 | 0.882 | 0.120 | 13 | 27924341 | missense variant | G/T | snv | 3 |