Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1208636573 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 15
rs622288 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 15
rs771237928 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs142433332 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 14
rs1553201258 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 14
rs11575937 0.653 0.480 1 156136985 missense variant G/A;T snv 14
rs869320624 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 13
rs28936375 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 13
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 13
rs201518227 1.000 1 179917914 missense variant C/T snv 3.2E-05 5.6E-05 13
rs869312824 0.827 0.200 1 1804565 missense variant A/G snv 13
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 12
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 12
rs869025195 0.790 0.280 1 155904493 missense variant T/G snv 11
rs34612342 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 11
rs781984979 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 11
rs781939614 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 11
rs794727774 0.827 0.240 1 23848684 stop gained C/T snv 11
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 11
rs1557612048 0.807 0.200 1 26767868 missense variant T/C snv 11
rs869312825 0.827 0.120 1 1804548 start lost T/C snv 11
rs121913595
MPZ
0.742 0.160 1 161306785 missense variant G/A;T snv 10
rs757511770 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs587777894 0.776 0.240 1 11124516 missense variant G/A;T snv 9