Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752362727
TMEM67
0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 22
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs372392424
PIGG
0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05 8
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv 8
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs1557036757
HUWE1
0.925 0.240 X 53647375 missense variant G/A snv 7
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv 6
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs1131692228
ACTL6B
0.925 0.160 7 100646637 missense variant C/T snv 5
rs1556913180
HUWE1
0.882 0.280 X 53536488 missense variant T/C snv 5
rs1557006903
HUWE1
0.851 0.280 X 53615815 missense variant C/T snv 5
rs773171451
KCNQ2 ; LOC105372724
0.882 0.040 20 63413535 missense variant G/A;T snv 8.0E-06 5