Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs771306418
CAMK1 ; OGG1
0.851 0.120 3 9765885 splice acceptor variant -/C delins 5
rs78311289
FGFR3
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 25
rs917411291
GZMM
0.851 0.360 19 544072 start lost A/C;G snv 9
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 8
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 19
rs267607911
MSH2
0.851 0.200 2 47403192 start lost A/C;G;T snv 5.1E-05; 1.4E-05 8
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv 5
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv 4
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1805087
MTR
0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 135
rs11615
ERCC1
0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 62
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs3789243
ABCB1
0.776 0.120 7 87591570 intron variant A/G snv 0.50 14
rs1049074086
CTSD
0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 9
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv 9
rs121913246
MET
0.827 0.200 7 116783360 missense variant A/G snv 7
rs917570055
GZMM
0.882 0.360 19 547342 start lost A/G snv 7
rs768824654
MSH2
1.000 0.120 2 47403390 start lost A/G snv 7.0E-06 6
rs773647920
MLH1
1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05 5
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 115
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs1057520030
MET
7 116777427 missense variant A/G;T snv 1
rs6842
AGR2
7 16794973 missense variant A/G;T snv 0.43 0.38 1