Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs61750654
ABCA4
0.925 0.120 1 94000870 stop gained G/A snv 2.0E-05 7.0E-06 5
rs1057518886
HMBS
11 119090043 frameshift variant C/- delins 5
rs397515508
ND2 ; ND1
0.925 0.160 MT 3700 missense variant G/A snv 4
rs1057518956
ZEB1
0.925 0.080 10 31520308 stop gained C/T snv 3