Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519961
SF3B1
0.851 0.240 2 197402759 missense variant C/T snv 4
rs775623976
SF3B1
0.851 0.240 2 197402760 missense variant G/A;C snv 4.0E-06 4
rs1057519885
CFAP61 ; CRNKL1
0.925 0.080 20 20052443 missense variant G/A snv 2
rs1800872
IL19 ; IL10
0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 16
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
rs1057519955
CNOT9
1.000 0.080 2 218584682 missense variant C/T snv 1
rs267599211
CNOT9
0.882 0.080 2 218584683 missense variant C/T snv 1
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv 6
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv 4
rs137854599
CDKN2A
0.882 0.080 9 21971093 missense variant C/G;T snv 2
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
rs121913385
CDKN2A
0.763 0.240 9 21971112 missense variant G/A;C snv 8
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv 11
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
rs770248150
KRAS
0.807 0.240 12 25225713 missense variant T/A;G snv 4.0E-06 6
rs17851045
KRAS
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 15
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv 3
rs267600971
CYP21A2 ; STK19 ; DXO
0.882 0.080 6 31972346 missense variant G/A snv 2
rs1057519884
CREBBP
0.752 0.240 16 3738616 missense variant C/A;T snv 11
rs398124146
CREBBP
0.742 0.360 16 3738617 missense variant G/A;C snv 12
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 8