Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1800470
TGFB1
0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 107
rs183178644
EXOC2 ; HUS1B
1.000 0.080 6 656415 missense variant C/G snv 1.6E-03 5.7E-04 2
rs151091483
MYHAS ; MYH8
1.000 0.080 17 10409361 missense variant A/C;G;T snv 4.0E-06; 1.2E-05; 3.1E-04; 4.0E-06 1.3E-04 2
rs141156594
RTTN
0.925 0.080 18 70196537 missense variant A/C;G snv 1.6E-05; 3.1E-03 2
rs181924090
SIRT3
1.000 0.080 11 218874 stop gained C/G;T snv 5.0E-04 2.4E-04 2
rs1442440 1.000 0.080 1 222066192 upstream gene variant T/C snv 0.28 1
rs1511412 1.000 0.080 3 138994862 regulatory region variant A/G;T snv 1
rs873549 1.000 0.080 1 222098425 intron variant C/T snv 0.75 1
rs11130248
HYAL1
1.000 0.080 3 50314769 upstream gene variant A/G snv 0.10 1
rs940187
MRPS22 ; BPESC1
1.000 0.080 3 139122751 intron variant T/C snv 0.70 1
rs2271289
NEDD4
1.000 0.080 15 55924595 non coding transcript exon variant C/T snv 0.33 1
rs8032158
NEDD4
1.000 0.080 15 55902679 intron variant T/A;C snv 1