Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs75961395
CFTR
0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 2
rs77932196
CFTR
0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05 2
rs730882207
EPB41L4A
0.925 0.160 5 112204453 missense variant G/A snv 2.4E-05 2.1E-05 2
rs786205866
EEF1A2
0.807 0.160 20 63495062 missense variant C/T snv 3
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins 3
rs1114167303
SON
0.925 0.120 21 33553079 frameshift variant GGTAT/- delins 3
rs886039773
SON
0.925 0.120 21 33554982 frameshift variant TTAG/- delins 3
rs886039778
SON
0.925 0.120 21 33552303 frameshift variant -/A delins 3
rs886039779
SON
0.925 0.120 21 33557227 frameshift variant C/- delins 3
rs886039777
SON ; MIR6501
0.925 0.120 21 33549517 stop gained C/T snv 3
rs886039905
COL6A2
0.882 0.240 21 46125854 frameshift variant -/T delins 4
rs111033212
SLC26A4
0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04 4
rs80338848
SLC26A4
0.851 0.240 7 107675051 missense variant T/C snv 2.7E-04 3.4E-04 4
rs1555307370
SOX5
0.882 0.160 12 23740986 stop gained G/A snv 4
rs863224229
SURF2 ; SURF1
0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 4
rs878853162
TUBB
0.851 0.320 6 30723724 missense variant C/T snv 4
rs1553354952
WDR26
0.882 0.200 1 224404492 missense variant C/T snv 4
rs1553354956
WDR26
0.882 0.200 1 224404504 missense variant A/C snv 4
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
rs730882242
DIAPH1
0.807 0.280 5 141573518 stop gained G/A snv 5
rs878853314
GBA
0.882 0.240 1 155239655 missense variant C/G snv 5
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs587777449
IFIH1
0.851 0.320 2 162282494 missense variant T/A;C snv 8.0E-06 6
rs1555580263
SMARCD2
0.827 0.240 17 63837200 stop gained -/AGGTAGAACCTTATCTGCCATCTTC delins 6