Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1057519882
CDKN2A
0.807 0.200 9 21974678 missense variant C/A snv 7
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
rs1057519885
CFAP61 ; CRNKL1
0.925 0.080 20 20052443 missense variant G/A snv 2
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
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
rs28931588
CTNNB1
0.701 0.200 3 41224606 missense variant G/A;C;T snv 14
rs28931589
CTNNB1
0.695 0.240 3 41224613 missense variant G/A;C;T snv 13
rs1057519886
CTNNB1
0.752 0.240 3 41224609 missense variant T/A;C;G snv 11
rs121913396
CTNNB1
0.732 0.200 3 41224607 missense variant A/C;G;T snv 11
rs121913399
CTNNB1
0.724 0.200 3 41224612 missense variant G/A;C snv 10
rs121913407
CTNNB1
0.763 0.240 3 41224645 missense variant T/C;G snv 10
rs121913412
CTNNB1
0.724 0.280 3 41224633 missense variant A/C;G;T snv 10
rs121913409
CTNNB1
0.708 0.400 3 41224646 missense variant C/A;G;T snv 9
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv 9
rs267600971
CYP21A2 ; STK19 ; DXO
0.882 0.080 6 31972346 missense variant G/A snv 2
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv 8