Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555528356
ANKRD11
0.790 0.360 16 89282836 stop gained G/A snv 13
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv 9
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs140047318
BMPR1B
0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06 3
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs371011047
DYNC2H1
0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 9
rs764926983
DYNC2H1
0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 9
rs1565311145
DYNC2H1
0.882 0.120 11 103116677 stop gained T/A snv 7
rs767846762
DYNC2H1
0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 7
rs1565317399
DYNC2H1
0.882 0.120 11 103122879 stop gained C/T snv 6
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 7
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16
rs77096466
GNAS
1.000 0.080 20 58905474 missense variant C/T snv 1
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv 5
rs199566527
NOG
0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 3
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 4