Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs12229654 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 14
rs1057518960
GJA1
0.882 0.160 6 121447333 missense variant G/C snv 7
rs793888541
TFAP2A-AS2 ; TFAP2A
0.807 0.120 6 10404631 missense variant A/T snv 7
rs1558027212
TMCO1
0.827 0.320 1 165728096 frameshift variant GC/- del 7
rs10512248
PTCH1
0.925 0.120 9 95497421 intron variant T/A;G snv 4
rs705704
RPS26 ; LOC105369780
0.882 0.240 12 56041628 non coding transcript exon variant G/A snv 0.26 4
rs11841646 0.882 0.120 13 80105167 intergenic variant T/A;G snv 0.42 3
rs12543318 0.882 0.120 8 87856112 intergenic variant C/A snv 0.68 3
rs227731 0.882 0.120 17 56695877 intergenic variant T/A;G snv 3
rs6029258 0.882 0.120 20 40656135 intergenic variant G/A snv 0.58 3
rs7566780 0.882 0.120 2 16548089 intron variant A/C;G snv 3
rs66515264
ABCA4
0.882 0.120 1 94092554 intron variant G/A;T snv 3
rs72728734
CCDC26
0.882 0.120 8 128921474 intron variant A/G snv 0.13 3
rs6072081
LOC102724968
0.851 0.120 20 40632414 intergenic variant A/G snv 0.49 3
rs12944377
NTN1
0.882 0.120 17 9044391 intron variant T/C snv 0.36 3
rs9439713
PAX7
0.882 0.120 1 18646282 intron variant G/A snv 0.31 3
rs9439714
PAX7
0.882 0.120 1 18649995 intron variant T/C snv 0.28 3
rs10886040
SHTN1
0.882 0.120 10 117086783 intron variant C/G snv 0.20 3
rs76479869
TP63
0.882 0.120 3 189835583 intron variant C/T snv 4.3E-02 3
rs10462065 0.925 0.120 5 44068744 upstream gene variant C/A snv 8.3E-02 2
rs12375983 0.925 0.120 9 89595154 intron variant G/A snv 0.13 2
rs1243572 0.925 0.120 14 94913162 intergenic variant T/C snv 0.78 2