Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv 24
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs121909574
TFAP2A-AS2 ; TFAP2A
0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 17
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv 13
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs1555706928
SETBP1
0.851 0.240 18 44951954 missense variant G/A snv 8
rs121907900
WT1
0.763 0.200 11 32392020 missense variant G/A snv 7
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 6
rs1565286228
MYRF
0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 6
rs132630297
PHF6
0.925 0.280 X 134425256 stop gained C/A;T snv 6
rs1085307132
SCRIB ; PUF60
0.882 0.160 8 143817668 frameshift variant -/TTTT delins 5
rs1565308384
TMEM258 ; MYRF
0.827 0.200 11 61784321 frameshift variant -/A delins 5
rs137852569
AR
0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 3
rs1057517779
NR5A1
0.851 0.160 9 124493083 missense variant G/A snv 2
rs121434250
SRD5A2
0.790 0.200 2 31529419 missense variant C/G;T snv 1.4E-04 1.5E-04 2
rs9332964
SRD5A2
0.763 0.240 2 31529325 missense variant C/T snv 4.7E-04 1.6E-04 2
rs121918508
FGFR2
0.851 0.360 10 121488035 missense variant C/T snv 1
rs9332960
SRD5A2
0.882 0.200 2 31580885 stop gained G/A snv 1.7E-05 1
rs9332967
SRD5A2
0.790 0.200 2 31526224 missense variant C/T snv 2.3E-04 1.1E-04 1
rs1037084691
WT1
0.827 0.160 11 32392031 missense variant C/G;T snv 1