Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs72481822
EPM2AIP1 ; MLH1
0.925 0.160 3 36993550 start lost G/A;T snv 4
rs587778967
EPM2AIP1 ; MLH1
0.925 0.200 3 36993548 start lost A/C;G snv 3
rs63750648
EPM2AIP1 ; MLH1
0.882 0.160 3 36993602 missense variant A/T snv 3
rs267607706
EPM2AIP1 ; MLH1
0.882 0.160 3 36993661 missense variant C/A;G;T snv 4.0E-06 2
rs63750617
FBXO11 ; MSH6
0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 5
rs63750342
FBXO11 ; MSH6
0.925 0.160 2 47791092 stop gained G/A snv 2
rs1553412495
FBXO11 ; MSH6
1.000 0.160 2 47799083 missense variant A/G snv 1
rs1558664787
FBXO11 ; MSH6
1.000 0.160 2 47800217 missense variant T/A snv 1
rs587779294
FBXO11 ; MSH6
1.000 0.160 2 47806470 stop gained G/A;C;T snv 1
rs63750832
FBXO11 ; MSH6
1.000 0.160 2 47800075 stop gained C/A;G;T snv 8.0E-06 1
rs773226008
FBXO11 ; MSH6
1.000 0.160 2 47799428 missense variant G/A;C snv 8.0E-06 1
rs63750610
MLH1
0.851 0.240 3 37048563 missense variant C/G;T snv 6
rs63750781
MLH1
0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 6
rs267607901
MLH1
0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 5
rs587778998
MLH1
0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06 4
rs63750453
MLH1
0.882 0.160 3 37001051 missense variant G/A snv 4
rs63751022
MLH1
0.925 0.160 3 37050523 stop gained G/A snv 3
rs63751662
MLH1
0.925 0.160 3 37048609 missense variant G/A;T snv 3
rs267607727
MLH1
0.925 0.160 3 37001049 splice donor variant G/A;T snv 2
rs267607734
MLH1
1.000 0.160 3 37001054 splice donor variant G/A snv 2
rs267607771
MLH1
0.925 0.160 3 37014549 splice region variant G/A;T snv 2
rs63750193
MLH1
0.851 0.160 3 37040276 missense variant T/C snv 2
rs63750971
MLH1
0.925 0.160 3 37050533 frameshift variant CA/-;CACA delins 2
rs63751448
MLH1
1.000 0.160 3 37017509 missense variant G/A;C;T snv 4.8E-05; 4.0E-06 2
rs1253275403
MLH1
1.000 0.160 3 37017542 missense variant T/C;G snv 4.0E-06 1