Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs768933093 | 0.807 | 0.240 | 12 | 76348214 | missense variant | G/A | snv | 4.8E-05 | 4.9E-05 | 10 | |
rs778431173 | 12 | 76346181 | missense variant | C/A;G | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs549625604 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 13 | ||
rs1555202806 | 1.000 | 0.120 | 12 | 76348313 | frameshift variant | AACGCCGC/- | delins | 3 |