Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs281874657
COL4A5
0.925 0.160 X 108586717 stop gained C/T snv 3
rs202047589
HOGA1
0.925 0.160 10 97599780 missense variant C/T snv 4.4E-05 7.0E-05 2
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs7582694
STAT4
0.763 0.400 2 191105394 intron variant C/G snv 0.77 9
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 15
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs886039813
OFD1
0.827 0.160 X 13756600 frameshift variant C/- delins 8
rs771454167
CEP290
0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 6
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 134
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 64
rs34557412
TNFRSF13B
0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 15
rs1555487316
UMOD
0.882 0.240 16 20348247 missense variant A/C snv 5
rs1567202189
PKD1
1.000 0.080 16 2111276 inframe insertion -/GTG ins 2
rs1553948516
SCARB2
0.925 0.120 4 76181009 frameshift variant -/G delins 3
rs118203478
TSC1
0.882 0.200 9 132911492 frameshift variant -/A;AA delins 5