Gene: MLH1 ×
Source: CURATED ×
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: rs63751012
rs63751012
MLH1 ; EPM2AIP1
5 0.851 0.200 3 36993656 stop gained G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167435
rs1114167435
MLH1
1 1.000 0.080 3 37025932 frameshift variant AG/- delins 0.700 0
dbSNP: rs1434898623
rs1434898623
MLH1
3 1.000 0.080 3 37040295 splice donor variant G/A snv 0.700 0
dbSNP: rs1553651073
rs1553651073
MLH1
2 0.925 0.160 3 37025834 frameshift variant CA/- delins 0.700 0
dbSNP: rs587779018
rs587779018
MLH1
2 0.925 0.160 3 37008855 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs587779021
rs587779021
MLH1
4 0.851 0.200 3 37008905 missense variant G/A;C snv 0.700 0
dbSNP: rs63750206
rs63750206
MLH1
7 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
dbSNP: rs63750547
rs63750547
MLH1
3 0.925 0.160 3 37020312 stop gained T/C;G snv 4.0E-06 0.700 0
dbSNP: rs63750691
rs63750691
MLH1
4 0.882 0.160 3 37017521 stop gained C/G snv 0.700 0
dbSNP: rs63750781
rs63750781
MLH1
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.700 0