Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv 7
rs267608058
FBXO11 ; MSH6
0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 6
rs80359763
BRCA2
0.851 0.240 13 32394864 frameshift variant GT/- delins 5
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 2
rs869312780
PTEN
0.925 0.120 10 87957983 frameshift variant AG/- delins 2
rs80357796
BRCA1
0.752 0.240 17 43094464 frameshift variant T/- del 1