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: rs1057517543
rs1057517543
MLH1
1 1.000 0.080 3 37000954 splice region variant AAGAAGATCTGGA/- delins 0.700 0
dbSNP: rs1057517617
rs1057517617
MLH1
1 1.000 0.080 3 37026007 splice donor variant GTATGG/- delins 0.700 0
dbSNP: rs1064795441
rs1064795441
MLH1
2 1.000 0.080 3 37001028 frameshift variant T/- delins 0.700 0
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
3 0.882 0.200 3 36993651 missense variant TG/AC mnv 0.700 0
dbSNP: rs1553641273
rs1553641273
MLH1
1 1.000 0.080 3 37004418 frameshift variant C/- delins 0.700 0
dbSNP: rs1553644123
rs1553644123
MLH1
3 1.000 0.080 3 37012011 stop gained C/T snv 0.700 0
dbSNP: rs1553647894
rs1553647894
MLH1
4 0.882 0.200 3 37020309 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1553658104
rs1553658104
MLH1
1 1.000 0.080 3 37040257 frameshift variant -/A delins 0.700 0
dbSNP: rs1559524405
rs1559524405
MLH1
2 0.925 0.160 3 37008874 stop gained G/T snv 0.700 0
dbSNP: rs1559553492
rs1559553492
MLH1
2 0.925 0.160 3 37025875 frameshift variant -/TG delins 0.700 0
dbSNP: rs1559554339
rs1559554339
MLH1
2 0.925 0.160 3 37025985 stop gained G/T snv 0.700 0
dbSNP: rs1559558071
rs1559558071
MLH1
2 0.925 0.160 3 37028782 splice acceptor variant AG/CC mnv 0.700 0
dbSNP: rs1559588540
rs1559588540
MLH1
2 0.925 0.160 3 37047651 frameshift variant C/- del 0.700 0
dbSNP: rs267607709
rs267607709
MLH1 ; EPM2AIP1
3 0.925 0.160 3 36993664 splice donor variant G/A;T snv 0.700 0
dbSNP: rs267607720
rs267607720
MLH1
6 0.851 0.240 3 37000952 splice region variant C/G;T snv 0.700 0
dbSNP: rs267607735
rs267607735
MLH1
4 0.851 0.240 3 37001058 splice region variant G/A snv 0.700 0
dbSNP: rs267607760
rs267607760
MLH1
3 0.925 0.160 3 37008908 splice region variant A/G snv 0.700 0
dbSNP: rs267607768
rs267607768
MLH1
6 0.851 0.240 3 37011867 splice region variant G/A;C snv 0.700 0
dbSNP: rs267607853
rs267607853
MLH1
4 0.925 0.160 3 37042332 splice donor variant G/A;C;T snv 0.700 0
dbSNP: rs34213726
rs34213726
MLH1
1 1.000 0.080 3 37025925 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs35502531
rs35502531
MLH1
8 0.827 0.160 3 37047639 missense variant AA/GC mnv 0.700 0
dbSNP: rs41285097
rs41285097
MLH1 ; EPM2AIP1
2 0.925 0.160 3 36993506 5 prime UTR variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs4986984
rs4986984
MLH1
5 0.882 0.080 3 37012071 missense variant C/A;T snv 3.7E-04 0.700 0
dbSNP: rs55907433
rs55907433
MLH1
2 0.925 0.120 3 37048583 missense variant A/G;T snv 1.1E-03; 4.0E-06 0.700 0
dbSNP: rs587778920
rs587778920
MLH1
1 1.000 0.080 3 37028872 inframe deletion CAT/- delins 1.4E-05 0.700 0