Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs1553193507
NOTCH2
1.000 0.080 1 119915869 stop gained G/A snv 2
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 25
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs727502810
RIC3 ; TUB
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 8
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 29
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs1555793103
SNHG22 ; MYO5B
0.882 0.240 18 49836710 splice donor variant C/G snv 4
rs1555793199
MYO5B ; SNHG22
0.882 0.240 18 49837750 frameshift variant G/- delins 4
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 13
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17