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
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36
rs104894228
LRRC56 ; HRAS
0.605 0.560 11 534286 missense variant C/A;G;T snv 30
rs11554290
NRAS
0.583 0.600 1 114713908 missense variant T/A;C;G snv 25
rs28933406
LRRC56 ; HRAS
0.667 0.480 11 533875 missense variant G/C;T snv 17
rs121913364
BRAF
0.641 0.520 7 140753334 missense variant T/C;G snv 4.0E-06 14
rs781626187
LOC105369801 ; SRGAP1
1.000 12 64016970 missense variant A/C;T snv 2.9E-05; 4.1E-06 1
rs119486096
LOC112268064 ; MINPP1
1.000 10 87505037 missense variant C/T snv 1
rs104894171
MINPP1
1.000 10 87508507 missense variant A/G snv 1
rs1564566774
PTEN
1.000 10 87957890 frameshift variant A/- del 1
rs797044990
SRGAP1
1.000 12 64062938 missense variant G/A snv 1
rs114817817
SRGAP1 ; LOC105369798
1.000 12 64108967 missense variant C/T snv 1.1E-03 9.9E-04 1