Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs782203759
TRRAP
1.000 0.080 7 98950120 missense variant G/A snv 2.4E-05 2.8E-05 1
rs1003158162
TTN-AS1 ; TTN
1.000 0.080 2 178531968 missense variant G/A snv 4.0E-06 1
rs55713867
TTN-AS1 ; TTN
1.000 0.080 2 178575658 missense variant A/G snv 1
rs756924372
TTN-AS1 ; TTN
1.000 0.080 2 178534461 missense variant G/A;C snv 4.0E-06 1
rs199684560
TTN ; TTN-AS1
1.000 0.080 2 178633512 missense variant G/A snv 7.3E-05 4.2E-05 1
rs373526624
TTN ; TTN-AS1
1.000 0.080 2 178607095 missense variant C/T snv 7.0E-04 1.6E-04 1
rs397517769
TTN ; TTN-AS1
1.000 0.080 2 178542408 missense variant C/T snv 5.6E-05 1.4E-05 1
rs1057519875
ACVR1
0.925 0.120 2 157770385 missense variant C/A snv 2
rs140081212
GBAP1
0.925 0.080 1 155215184 non coding transcript exon variant G/A snv 2
rs1057519907
KIT
0.925 0.120 4 54728057 missense variant A/C snv 2
rs863224846
ACVR1
0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06 3
rs1057519900
FGFR2
0.882 0.120 10 121515259 missense variant C/T snv 3
rs714
DCC
0.925 0.080 18 52992904 intron variant A/G snv 0.76 4
rs1057519908
MAP2K1
0.882 0.120 15 66435105 missense variant T/G snv 4
rs1057519910
MAP2K2
0.851 0.160 19 4117551 missense variant A/C;T snv 4
rs1057519916
MTOR
0.882 0.160 1 11109320 missense variant T/A snv 4
rs1057519951
RHOA
0.882 0.080 3 49375472 missense variant C/G;T snv 4
rs1057519954
RHOA
0.882 0.160 3 49375465 missense variant T/A;C;G snv 4
rs1050631
SLC39A6
0.882 0.080 18 36114157 synonymous variant G/A snv 0.33 0.30 4
rs1057519956
CNOT9
0.827 0.200 2 218583025 missense variant T/C snv 5
rs1057519957
CNOT9
0.827 0.200 2 218583026 missense variant C/G snv 5
rs1057519862
ERBB2
0.851 0.160 17 39723405 missense variant G/A snv 5
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv 5
rs1057519898
FGFR1
0.851 0.120 8 38417333 missense variant T/C snv 5
rs1057519899
FGFR1
0.851 0.120 8 38417879 missense variant T/C snv 5