Source: CLINVAR ×
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519963 | 0.925 | 0.080 | 2 | 39054637 | missense variant | T/A | snv | 2 | |||
rs1057519854 | 0.882 | 0.080 | 10 | 121488063 | missense variant | A/T | snv | 5 | |||
rs1057519901 | 0.925 | 0.080 | 10 | 121498525 | missense variant | T/G | snv | 5 | |||
rs121913476 | 0.851 | 0.080 | 10 | 121498520 | missense variant | A/C;T | snv | 5 | |||
rs1057519045 | 0.851 | 0.160 | 10 | 121498522 | missense variant | T/G | snv | 6 | |||
rs1057519920 | 0.790 | 0.160 | 2 | 177234232 | missense variant | C/A;G;T | snv | 7 | |||
rs1057519921 | 0.763 | 0.240 | 2 | 177234231 | missense variant | T/C | snv | 7 | |||
rs121913365 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 8 | |||
rs121913469 | 0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv | 8 | |||
rs786201419 | 0.790 | 0.160 | 17 | 7675180 | missense variant | C/A;T | snv | 8 | |||
rs786203071 | 0.776 | 0.240 | 17 | 7675181 | missense variant | T/A;G | snv | 8 | |||
rs1057519929 | 0.776 | 0.320 | 3 | 179199066 | missense variant | G/A | snv | 9 | |||
rs1057519947 | 0.790 | 0.160 | 19 | 52212730 | missense variant | G/A | snv | 9 | |||
rs121913409 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 9 | |||
rs121913413 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 9 | |||
rs371769427 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 9 | ||
rs1057519926 | 0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv | 10 | |||
rs1057519938 | 0.776 | 0.160 | 3 | 179203764 | missense variant | A/C;T | snv | 10 | |||
rs1057519939 | 0.776 | 0.160 | 3 | 179203763 | missense variant | A/C | snv | 10 | |||
rs121913284 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 10 | |||
rs121913399 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 10 | |||
rs121913407 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 10 | |||
rs121913412 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 10 | |||
rs397507484 | 0.752 | 0.480 | 7 | 140753333 | missense variant | T/A;C;G | snv | 10 | |||
rs1057519886 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv | 11 |