Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs1553212868
POGZ
0.807 0.280 1 151406264 frameshift variant G/- delins 17
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins 16
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 16
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs1135401743
HAAO ; MTA3
0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 11
rs72474224
GJB2
0.708 0.440 13 20189473 missense variant C/A;T snv 7.7E-03 11
rs80358284
PRSS23 ; FZD4
0.790 0.240 11 86952443 missense variant T/A;C snv 4.0E-06; 2.4E-05 10
rs1566304640
EDNRB-AS1 ; EDNRB
0.827 0.280 13 77900593 missense variant G/A snv 8
rs281874674
COL4A5
0.827 0.280 X 108597479 missense variant G/C;T snv 8
rs111033437
MYO7A
0.882 0.120 11 77179925 missense variant G/A;T snv 6
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs1564494285
RET
0.882 0.200 10 43111219 frameshift variant TG/- delins 6
rs200455852
ASAH1
0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 6
rs796053353
STXBP1
0.882 0.120 9 127661192 missense variant C/T snv 6
rs1057516039
KMT2D
0.882 0.280 12 49029400 splice donor variant C/T snv 5
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins 5
rs80356529
OPA1
0.827 0.240 3 193643996 missense variant G/A;C snv 5
rs104894403
GJB2
0.851 0.240 13 20189386 missense variant C/A;G;T snv 4.0E-06 4
rs104894409
GJB2
0.827 0.120 13 20189332 missense variant C/A;G;T snv 1.6E-05; 3.6E-05; 4.0E-06 4
rs1057518895
RAB33A ; AIFM1
1.000 0.120 X 130137134 start lost A/G snv 4
rs1559320299
PAX3 ; CCDC140
0.925 0.160 2 222297043 missense variant T/A snv 4
rs1569167515
POLR2F ; SOX10
0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 4
rs1569492161
COL4A5
0.882 0.280 X 108586729 missense variant G/C snv 4