Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs1057519875
rs1057519875
ACVR1
2 0.925 0.120 2 157770385 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs863224846
rs863224846
ACVR1
3 0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs764255410
rs764255410
ACVR2A
1 1.000 0.080 2 147918546 missense variant G/A snv 0.700 0
dbSNP: rs2494752
rs2494752
AKT1
10 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 0.010 1.000 1 2016 2016
dbSNP: rs747576071
rs747576071
AXL
1 1.000 0.080 19 41243665 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs752802257
rs752802257
BMPR1A
1 1.000 0.080 10 86923490 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs200035802
rs200035802
BMPR1B
1 1.000 0.080 4 95104516 missense variant G/A snv 1.7E-04 1.5E-04 0.700 0
dbSNP: rs121913364
rs121913364
BRAF
34 0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913365
rs121913365
BRAF
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs397507484
rs397507484
BRAF
10 0.752 0.480 7 140753333 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs781375003
rs781375003
BRDT
1 1.000 0.080 1 91964700 missense variant C/T snv 8.3E-06 7.0E-06 0.700 0
dbSNP: rs144130246
rs144130246
BRSK1
1 1.000 0.080 19 55302746 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1057519881
rs1057519881
CDKN2A
8 0.776 0.240 9 21971111 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519882
rs1057519882
CDKN2A
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
CDKN2A
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913385
rs121913385
CDKN2A
9 0.763 0.240 9 21971112 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs34968276
rs34968276
CDKN2A
9 0.776 0.240 9 21971110 stop gained G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519956
rs1057519956
CNOT9
5 0.827 0.200 2 218583025 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519957
rs1057519957
CNOT9
5 0.827 0.200 2 218583026 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
CREBBP
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
CREBBP
12 0.742 0.360 16 3738617 missense variant G/A;C snv 0.700 1.000 1 2016 2016