Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs797045032
CLCN1
0.827 0.280 7 143321720 missense variant GG/TC mnv 11
rs55960271
CLCN1
0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 5
rs80356690
CLCN1
0.882 0.120 7 143330788 missense variant C/G;T snv 1.2E-05 4
rs80356696
CLCN1
0.851 0.120 7 143342001 missense variant A/G;T snv 4
rs748537564
CLCN1
0.882 0.160 7 143345595 missense variant C/A;T snv 9.5E-05 3
rs762754992
CLCN1
0.882 0.120 7 143341995 missense variant C/T snv 1.6E-05 3
rs764100025
CLCN1
0.882 0.120 7 143330810 missense variant G/A snv 1.6E-05 3
rs80356697
CLCN1
0.882 0.120 7 143342013 missense variant T/A snv 1.6E-05 3
rs80356700
CLCN1
0.882 0.120 7 143321841 missense variant G/A;T snv 1.2E-05; 8.0E-06 3
rs80356703
CLCN1
0.882 0.120 7 143331265 missense variant G/A;T snv 2.8E-05 3
rs1222525763
CLCN1
0.925 0.120 7 143346578 splice acceptor variant G/C;T snv 4.0E-06 2
rs1273524525
CLCN1
0.925 0.120 7 143345763 splice donor variant G/A;C;T snv 8.7E-06 2
rs1554436419
CLCN1
0.925 0.120 7 143330816 stop gained CG/TA mnv 2
rs1554436799
CLCN1
0.925 0.120 7 143332431 stop gained T/A snv 2
rs1563084597
CLCN1
0.925 0.120 7 143341990 frameshift variant AT/- del 2
rs202217420
CLCN1
0.925 0.120 7 143316395 splice region variant A/G;T snv 3.0E-04 2
rs369773321
CLCN1
0.925 0.120 7 143321720 stop gained G/A;T snv 1.6E-05; 4.4E-05 2
rs529377088
CLCN1
0.925 0.120 7 143320663 splice acceptor variant G/A snv 4.0E-06 2
rs746125212
CLCN1
0.925 0.120 7 143339295 missense variant G/A;C snv 1.2E-05 2
rs759761559
CLCN1
0.925 0.120 7 143331264 stop gained C/T snv 2
rs767000881
CLCN1
0.925 0.120 7 143331315 missense variant G/A;C snv 1.6E-05 2
rs780534566
CLCN1
0.925 0.120 7 143350577 frameshift variant CT/- del 2
rs121912807
CLCN1
1.000 0.120 7 143339534 missense variant G/A snv 4.0E-06 1
rs1554434400
CLCN1
1.000 0.120 7 143319794 stop gained C/T snv 1
rs1554434794
CLCN1
1.000 0.120 7 143321399 frameshift variant C/- delins 1