Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs4925
GSTO1
0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 28
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 20
rs569681869
COL4A4
0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 6
rs533297350
COL4A4
1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 5
rs121909585
C3
0.925 0.120 19 6692971 missense variant C/T snv 4
rs121912861
COL4A4
0.882 0.160 2 227022135 stop gained G/A snv 8.0E-06 4
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins 4
rs10969913 1.000 0.080 9 30866810 intergenic variant A/G snv 6.3E-02 3
rs11122573 1.000 0.080 1 230701434 upstream gene variant C/T snv 8.0E-02 3
rs17055178 1.000 0.080 5 157976402 downstream gene variant A/G snv 7.2E-02 3
rs769783985
COL4A4
0.925 0.120 2 227052395 missense variant C/G;T snv 1.2E-05 2.1E-05 3
rs2277798
UBASH3A
0.925 0.120 21 42403997 missense variant A/G snv 0.55 0.60 3
rs797044813
CLCN5
1.000 0.120 X 50090490 stop gained C/T snv 2
rs779593707
CLCNKB
1 16049884 stop gained -/AATA delins 1.2E-05 7.0E-06 2
rs1559643753
COL4A4
1.000 0.120 2 227108597 missense variant C/T snv 2
rs1556463583
COL4A5
X 108695350 frameshift variant -/A delins 2
rs1569497030
COL4A5
1.000 X 108615026 splice donor variant T/G snv 2
rs398123643
COL6A1
1.000 0.120 21 45989626 missense variant G/A snv 2
rs761310536
COL6A2
1.000 0.120 21 46121115 missense variant G/A snv 1.2E-05 7.0E-06 2
rs200287952
MFF-DT ; COL4A3
1.000 2 227277511 missense variant G/A snv 1.1E-04 1.5E-04 2
rs760545501 2 224359374 regulatory region variant C/T snv 1.2E-04 1
rs9644778 8 7052132 downstream gene variant A/C snv 0.34 1
rs56254331
CCDC97 ; TGFB1
19 41320115 intron variant A/C;G snv 0.11 1