Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs891835
CCDC26
0.851 0.120 8 129479506 intron variant T/G snv 0.17 5
rs10464870
CCDC26
0.882 0.040 8 129465577 intron variant C/T snv 0.80 3
rs6470745
CCDC26
0.882 0.040 8 129629675 intron variant A/G snv 0.18 3
rs753152604
CDK4
0.827 0.040 12 57751680 missense variant C/A snv 7
rs1453633223
CDKN2A
0.807 0.080 9 21974503 missense variant C/T snv 4.0E-06 6
rs757066045
CDKN2A
0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06 4
rs4977756
CDKN2B-AS1
0.683 0.440 9 22068653 intron variant G/A snv 0.64 24
rs634537
CDKN2B-AS1
0.851 0.080 9 22032153 intron variant T/G snv 0.28 6
rs145929329
CDKN2B-AS1
0.882 0.040 9 22066213 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT delins 0.58 3
rs1444669684
CDKN2B-AS1 ; CDKN2A
0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs2017309
CHEK2
0.851 0.040 22 28735438 intron variant T/A snv 0.23 4
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
rs1029044314
DDR1
0.851 0.040 6 30898095 missense variant G/A snv 4
rs2235544
DIO1
0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 14
rs12885300
DIO2 ; DIO2-AS1
0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 7
rs1558650888
DNMT3A
0.925 0.040 2 25234308 missense variant G/A snv 2
rs1346787
EFEMP1 ; LOC112268416
0.882 0.040 2 55865477 downstream gene variant C/A;G;T snv 3
rs121913444
EGFR
0.724 0.160 7 55191831 missense variant T/A;C;G snv 18
rs28929495
EGFR
0.807 0.120 7 55174014 missense variant G/A;C;T snv 9
rs149840192
EGFR
0.807 0.080 7 55154129 missense variant C/A;T snv 7
rs121913428
EGFR
0.827 0.120 7 55174015 missense variant G/A;C snv 6
rs11979158
EGFR
0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 5
rs59060240
EGFR
0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 4
rs723527
EGFR
0.882 0.040 7 55067179 intron variant A/G snv 0.53 4