Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 100
rs34557412
TNFRSF13B
0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 15
rs867394500
ACE
0.851 0.080 17 63477301 missense variant G/T snv 4
rs7222094
MAP3K14
0.882 0.120 17 45290287 intron variant T/C snv 0.54 3
rs538166970
ACE
0.925 0.080 17 63496920 missense variant G/A;C snv 1.6E-05; 4.0E-06 2
rs28933979
TTR
0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 70
rs121918079
TTR
0.790 0.280 18 31595143 missense variant T/C snv 10
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs1800471
TGFB1
0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 48
rs777919630
CBS
0.623 0.680 21 43062358 missense variant G/A;T snv 8.0E-06; 4.0E-06 40
rs368087026
SLC19A1
0.637 0.520 21 45530890 missense variant G/A snv 33
rs738409
PNPLA3
0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 88
rs886039813
OFD1
0.827 0.160 X 13756600 frameshift variant C/- delins 8
rs1569492161
COL4A5
0.882 0.280 X 108586729 missense variant G/C snv 4
rs281874657
COL4A5
0.925 0.160 X 108586717 stop gained C/T snv 3