Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs863224846
ACVR1
0.882 0.160 2 157770386 missense variant T/C;G snv 4.0E-06 3
rs1057519875
ACVR1
0.925 0.120 2 157770385 missense variant C/A snv 2
rs764255410
ACVR2A
1.000 0.080 2 147918546 missense variant G/A snv 1
rs566841339
ASIC4-AS1 ; SPEG
1.000 0.080 2 219489128 missense variant G/A snv 2.8E-05 2.8E-05 1
rs747576071
AXL
1.000 0.080 19 41243665 missense variant C/T snv 1.6E-05 7.0E-06 1
rs1023835002
B2M ; PATL2
0.763 0.280 15 44711547 start lost A/G;T snv 10
rs1057519877
B2M ; PATL2
0.763 0.280 15 44711549 start lost G/A snv 10
rs752802257
BMPR1A
1.000 0.080 10 86923490 missense variant G/A snv 8.0E-06 7.0E-06 1
rs200035802
BMPR1B
1.000 0.080 4 95104516 missense variant G/A snv 1.7E-04 1.5E-04 1
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs397507484
BRAF
0.752 0.480 7 140753333 missense variant T/A;C;G snv 10
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv 8
rs781375003
BRDT
1.000 0.080 1 91964700 missense variant C/T snv 8.3E-06 7.0E-06 1
rs144130246
BRSK1
1.000 0.080 19 55302746 missense variant C/T snv 1.2E-05 1
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 12
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 9
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv 9
rs1057519881
CDKN2A
0.776 0.240 9 21971111 missense variant T/C snv 8
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
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
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs121913400
CTNNB1
0.683 0.360 3 41224610 missense variant C/A;G;T snv 17
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv 14