Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4647924 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs121918487 0.716 0.440 10 121517378 missense variant C/A;G;T snv 24
rs121918494 0.790 0.160 10 121517363 missense variant G/C snv 24
rs79184941 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs121918491 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 14
rs121913478 0.708 0.640 10 121515280 missense variant T/C snv 13
rs77543610 0.667 0.560 10 121520160 missense variant G/C snv 12
rs1057519044 0.752 0.440 10 121517390 missense variant C/T snv 11
rs1434545235 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 11
rs1554927408 0.742 0.480 10 121515254 missense variant C/T snv 11
rs776587763 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 6
rs121918488 0.790 0.120 10 121517379 missense variant A/C;G;T snv 4
rs121918502 0.790 0.160 10 121517351 missense variant G/C snv 4
rs121909627 0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 3
rs1057519043 0.851 0.120 10 121517391 missense variant C/A;G;T snv 3
rs121918497 0.776 0.160 10 121520052 missense variant T/G snv 3
rs1057519036 0.925 0.080 10 121520092 missense variant A/C snv 2
rs121918498 1.000 0.080 10 121520162 missense variant CG/AA mnv 1
rs121918501 0.807 0.080 10 121520050 missense variant A/C;G snv 1
rs387907372 1.000 0.080 10 121520160 missense variant GGC/AAG mnv 1