Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1554122802
FBN2
0.742 0.160 5 128335170 missense variant C/T snv 22