Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565311145
DYNC2H1
0.882 0.120 11 103116677 stop gained T/A snv 7
rs371011047
DYNC2H1
0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 9
rs1565317399
DYNC2H1
0.882 0.120 11 103122879 stop gained C/T snv 6
rs767846762
DYNC2H1
0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 7
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 15
rs764926983
DYNC2H1
0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 9
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs1057518972
TRPS1
0.827 0.200 8 115418359 missense variant C/T snv 7
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 7
rs886039813
OFD1
0.827 0.160 X 13756600 frameshift variant C/- delins 8
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
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
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 72
rs387906836
TULP1
0.851 0.080 6 35503763 missense variant G/A snv 5
rs1057519324
NPR2
0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 4
rs587784000
NIPBL
0.882 0.120 5 37044480 missense variant G/C;T snv 5
rs771148519
WDR19
0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 9
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs199566527
NOG
0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03 3
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv 16