Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 35
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 17
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs753611141
PMPCA
0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 14
rs768643552
PMPCA
0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 13
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv 11
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv 10
rs3218713
MYH7
0.763 0.160 14 23431468 missense variant C/A;T snv 10
rs587782958
MYBPC3
0.790 0.120 11 47333552 splice region variant C/T snv 1.7E-05 10
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 10
rs3218714
MYH7
0.763 0.160 14 23429279 missense variant G/A;C snv 9
rs397516127
MYH7
0.763 0.160 14 23426834 missense variant G/A;C snv 9
rs397516171
MYH7
0.763 0.160 14 23424041 missense variant C/G;T snv 9
rs397516264
MYH7
0.763 0.160 14 23431602 missense variant C/T snv 4.0E-06 9
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 8
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs397516354
TNNI3
0.790 0.120 19 55154094 missense variant C/A;G;T snv 4.0E-05 7
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 6
rs121909374
MYBPC3
0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 6
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv 6