Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs373496046
FGFR3
1.000 0.080 4 1803761 missense variant G/A;T snv 4.0E-06 1
rs886043448
DNAH5
0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 4
rs104893895
MSX2
0.882 0.160 5 174729222 missense variant C/A;T snv 3
rs12188164
AHRR
1.000 0.080 5 428121 intron variant C/A snv 0.27 1
rs1318358361
ARID1B
0.724 0.240 6 156778678 missense variant C/G snv 2.1E-05 13
rs766812325
RUNX2
0.882 0.080 6 45492058 missense variant C/G snv 3
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
rs213950
CFTR-AS1 ; CFTR
0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 16
rs75527207
CFTR
0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04 15
rs37973
GLCCI1 ; GLCCI1-DT
0.807 0.280 7 7968245 intron variant G/A;C snv 7
rs10246939
TAS2R38 ; MGAM
0.851 0.240 7 141972804 missense variant T/C snv 0.49 0.47 6
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv 5
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv 5
rs1621
MET
0.925 0.160 7 116797552 3 prime UTR variant G/A;C snv 2
rs38850
MET
1.000 0.080 7 116697595 intron variant G/A snv 0.20 1
rs42336 1.000 0.080 7 116801535 downstream gene variant A/G snv 0.34 1
rs4504543
AOAH
1.000 0.080 7 36643290 intron variant T/C snv 0.41 1
rs786200952
KAT6A
0.851 0.120 8 41934340 frameshift variant -/T delins 13
rs121909627
FGFR1
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06 8
rs1057518791
TRPS1
0.925 0.120 8 115604739 stop gained C/T snv 7
rs756016701
FGFR1
0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06 3
rs981703846
FGFR1
0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06 3
rs768918396
FGFR1
1.000 0.080 8 38419732 missense variant A/G snv 4.0E-06 1.4E-05 1
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59