Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267607900
rs267607900
MLH1
1 1.000 0.160 3 37050645 missense variant A/G;T snv 0.700 0
dbSNP: rs267607901
rs267607901
MLH1
5 0.882 0.160 3 37050633 frameshift variant AA/-;A;AAAA delins 0.700 0
dbSNP: rs267607940
rs267607940
MSH2
6 0.851 0.240 2 47416430 splice donor variant G/A;T snv 0.700 0
dbSNP: rs267607943
rs267607943
MSH2
4 0.925 0.160 2 47429740 splice acceptor variant A/C;G;T snv 0.700 0
dbSNP: rs267607953
rs267607953
MSH2
4 0.925 0.160 2 47429943 splice donor variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs267607969
rs267607969
MSH2
4 0.925 0.160 2 47466809 splice donor variant G/A;T snv 0.700 0
dbSNP: rs386833406
rs386833406
MSH2
1 1.000 0.160 2 47478337 missense variant G/A snv 0.700 0
dbSNP: rs544654228
rs544654228
RAD51D ; RAD51L3-RFFL
1 1.000 0.160 17 35106469 missense variant G/A;C;T snv 4.0E-05 0.700 0
dbSNP: rs564736113
rs564736113
MSH2
1 1.000 0.160 2 47429819 missense variant C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
8 0.925 0.200 3 36993548 start lost A/C;G snv 0.700 0
dbSNP: rs587778998
rs587778998
MLH1
4 0.925 0.160 3 37000991 missense variant A/G snv 8.0E-06 0.700 0
dbSNP: rs587779087
rs587779087
MSH2
1 1.000 0.160 2 47463022 intron variant T/A;C snv 0.700 0
dbSNP: rs587779101
rs587779101
MSH2
1 1.000 0.160 2 47470970 missense variant T/C;G snv 0.700 0
dbSNP: rs587779167
rs587779167
MSH2
1 1.000 0.160 2 47410326 missense variant T/A snv 0.700 0
dbSNP: rs587779190
rs587779190
MSH2
5 0.851 0.240 2 47414344 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs587779198
rs587779198
MSH2
4 0.925 0.160 2 47416294 splice acceptor variant A/G snv 0.700 0
dbSNP: rs587779294
rs587779294
MSH6 ; FBXO11
1 1.000 0.160 2 47806470 stop gained G/A;C;T snv 0.700 0
dbSNP: rs587779950
rs587779950
MLH1
1 1.000 0.160 3 36996618 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs587781462
rs587781462
MSH6 ; FBXO11
4 0.882 0.200 2 47800283 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs63749811
rs63749811
MSH2
4 0.925 0.160 2 47476474 frameshift variant G/- del 0.700 0
dbSNP: rs63749841
rs63749841
MSH2
1 1.000 0.160 2 47478498 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs63749919
rs63749919
MSH6 ; FBXO11
3 1.000 0.160 2 47800889 missense variant A/C;G;T snv 1.2E-05; 8.2E-06 0.700 0
dbSNP: rs63749936
rs63749936
MSH2
1 1.000 0.160 2 47412414 missense variant A/C;G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs63749990
rs63749990
MLH1
2 0.925 0.160 3 37000985 missense variant T/G snv 0.700 0
dbSNP: rs63750058
rs63750058
MSH2
1 1.000 0.160 2 47414282 stop gained C/A;T snv 0.700 0