Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs528302390
PKD1L1
0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 9
rs770861172
DNAH7
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06 6
rs751527253
NPHP3-ACAD11 ; NPHP3
0.827 0.240 3 132689264 splice acceptor variant CT/- del 2.6E-04 6
rs145457535
CCDC103 ; FAM187A
0.827 0.160 17 44902549 missense variant A/C snv 1.2E-03 1.3E-03 3