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
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del 7
rs770861172
DNAH7
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06 6
rs886037834
PKD1L1
0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 5
rs777516785
USP11
0.882 0.120 X 47242504 synonymous variant G/A snv 1.1E-05 5
rs746242380
CCDC103 ; FAM187A
1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 4
rs138890576
DNAH5
0.882 0.160 5 13844931 missense variant A/G snv 1.2E-05 7.0E-06 4
rs1485445500
NPHP3 ; NPHP3-ACAD11
0.925 0.160 3 132708202 stop gained G/A snv 8.0E-06 7.0E-06 2