Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs200215055
FCGR3B
0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 11
rs28931615
FGFR3
0.732 0.240 4 1804426 missense variant C/A;T snv 13
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 9
rs776587763
FGFR2
0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 7
rs104893895
MSX2
0.882 0.160 5 174729222 missense variant C/A;T snv 3
rs981703846
FGFR1
0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06 3
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 13
rs771148519
WDR19
0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 9
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv 5
rs766812325
RUNX2
0.882 0.080 6 45492058 missense variant C/G snv 3
rs9658281
NOS1
1.000 0.080 12 117329773 intron variant C/G;T snv 1
rs5443
CDCA3 ; GNB3
0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs121918491
FGFR2
0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 15
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs1060499549
ZNF462
0.882 0.120 9 106927699 stop gained C/T snv 4
rs886043448
DNAH5
0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 4
rs886043613
FGFR3
0.925 0.080 4 1801519 missense variant C/T snv 4
rs13431828
IL1RL1 ; IL18R1
0.925 0.160 2 102338193 5 prime UTR variant C/T snv 0.18 3
rs1224606327
FGFR2
1.000 0.080 10 121485399 missense variant C/T snv 4.0E-06 1
rs142511858
SOX6
1.000 0.080 11 16341047 missense variant C/T snv 1.3E-03 6.8E-04 1
rs2282851
TAPBP
1.000 0.080 6 33312532 intron variant C/T snv 0.23 1
rs6907229
KCNQ5
1.000 0.080 6 73174426 intron variant C/T snv 0.48 1
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs213950
CFTR-AS1 ; CFTR
0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 16