Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv 12
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 12
rs876657380
ARID1B
0.851 0.360 6 157181155 frameshift variant AA/- delins 11
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv 10
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 8
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs1057518812
FBN1
0.827 0.240 15 48430742 missense variant T/A snv 6
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv 6
rs1057518891
CHD7
0.851 0.120 8 60854479 stop gained C/T snv 6
rs10033900
CFI
0.807 0.040 4 109737911 intron variant T/C snv 0.54 5
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins 5
rs1057518938
NDE1 ; MYH11
0.882 0.080 16 15724166 missense variant C/G snv 5
rs879255531
EHMT1
0.882 0.400 9 137728379 stop gained C/T snv 5
rs10500355
RBFOX1
0.925 0.040 16 7409346 intron variant T/A snv 0.29 3
rs121912882
COL2A1 ; LOC105369752
0.851 0.280 12 47979534 missense variant G/A snv 3
rs12193446
LAMA2 ; LOC102723409
0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 3
rs524952 0.827 0.040 15 34713685 intergenic variant T/A snv 0.50 3
rs7744813
KCNQ5
0.925 0.040 6 72933566 intron variant C/A snv 0.66 3
rs9330813
WNT7B
1.000 0.040 22 45968281 intron variant G/A;C snv 3
rs10089517 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 2
rs10453441
WNT7B
1.000 0.040 22 45967859 intron variant A/G snv 0.40 2
rs1057518829
CACNA1F
1.000 0.040 X 49230343 stop gained T/A snv 2
rs634990 0.827 0.040 15 34713872 intergenic variant T/C snv 0.48 2
rs9747347
TSPAN10 ; NPLOC4
1.000 0.040 17 81639794 intron variant T/A;C;G snv 2