Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs917570055
GZMM
0.882 0.360 19 547342 start lost A/G snv 7
rs202003805
PRSS1
0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 6
rs121913484
FGFR3
0.851 0.240 4 1804365 missense variant A/T snv 5
rs1245554802
CAMK1 ; OGG1
0.851 0.120 3 9765892 splice acceptor variant T/C snv 4.0E-06 5
rs35690297
PMS2
1.000 0.120 7 6002584 start lost T/A;C snv 5
rs587779383
FGFR3
0.851 0.120 4 1806157 missense variant A/C;G;T snv 5
rs771306418
CAMK1 ; OGG1
0.851 0.120 3 9765885 splice acceptor variant -/C delins 5
rs1057520039
STK11
0.882 0.200 19 1207169 stop gained C/G;T snv 4
rs121913671
MET
0.882 0.160 7 116783353 missense variant G/A;C snv 4
rs267607906
MLH1
1.000 0.160 3 37050576 stop gained A/C;G;T snv 4
rs6886
CAPG
0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 4
rs863224683
TP53
17 7675224 missense variant G/A;C snv 4
rs121434265
LOC101929160 ; CDC73
0.925 0.080 1 193125142 stop gained C/G snv 3
rs121913245
MET
0.925 0.120 7 116783420 missense variant T/C snv 3
rs876658923
EPM2AIP1 ; MLH1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 3
rs121913480
FGFR3
1.000 0.120 4 1806604 missense variant G/T snv 2
rs369999291
APC
5 112767315 missense variant G/A snv 2
rs767606327
MTTP
4 99613118 missense variant T/C;G snv 1.2E-05; 4.0E-06 2
rs1057520030
MET
7 116777427 missense variant A/G;T snv 1
rs1418016570
PRKN
6 161973326 missense variant G/C snv 4.0E-06 1
rs876659156
APC
5 112839714 missense variant G/A snv 1
rs1049074086
CTSD
0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 9
rs758272654
GNAS
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs577715207
TP63
0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 8