Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs753242774
MIR1226 ; DHX30
0.882 0.120 3 47848237 missense variant C/A;T snv 9
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv 5
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
rs886039777
SON ; MIR6501
0.925 0.120 21 33549517 stop gained C/T snv 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
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs765243124
COL17A1
0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 14
rs1057519566
MDH2
0.851 0.160 7 76063579 missense variant C/T snv 7
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05 7
rs863224880
IGHMBP2
0.925 0.160 11 68906074 stop gained G/A snv 7
rs370244148
WNT2B
0.882 0.160 1 112514896 stop gained C/A;T snv 1.6E-05; 1.2E-05 6
rs1555307370
SOX5
0.882 0.160 12 23740986 stop gained G/A snv 4
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins 3
rs786205866
EEF1A2
0.807 0.160 20 63495062 missense variant C/T snv 3
rs730882207
EPB41L4A
0.925 0.160 5 112204453 missense variant G/A snv 2.4E-05 2.1E-05 2
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv 18
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 16
rs121912855
COL7A1
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 15
rs757075712
TFAM
0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 14
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv 13
rs35135520
TIMM50
0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 12
rs776019250
TIMM50
0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 12