Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 28
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs1057518914
RPS6KA3
0.790 0.160 X 20193547 missense variant G/C snv 14
rs1164484724
MAN1B1
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06 13
rs886039813
OFD1
0.827 0.160 X 13756600 frameshift variant C/- delins 8
rs104894578
KCNJ2
0.807 0.280 17 70175691 missense variant C/T snv 6
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv 5
rs1553761113
ATR
0.851 0.240 3 142507967 missense variant C/A snv 5
rs1232197674
TFAP2B
0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05 5
rs866789963
BCL2L14 ; LRP6
1.000 12 12150835 splice donor variant C/A;T snv 3
rs869320636
BCL2L14 ; LRP6
1.000 12 12138536 splice acceptor variant T/G snv 3
rs869320639
LRP6 ; BCL2L14
1.000 12 12165232 missense variant C/T snv 3