Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs773647920
rs773647920
MLH1
1.000 0.120 3 37001037 start lost A/G snv 2.4E-04 3.5E-05
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 < 0.001 1 2009 2009
dbSNP: rs876658923
rs876658923
MLH1 ; EPM2AIP1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs63750339
rs63750339
MLH1
0.925 0.200 3 37020441 frameshift variant C/- delins
CUI: C0262401
Disease: Carcinoma of ampulla of Vater
Carcinoma of ampulla of Vater 		0.010 1.000 1 2019 2019
dbSNP: rs754554026
rs754554026
MLH1
0.827 0.160 3 37028864 missense variant G/A;C snv 2.8E-05 7.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2012 2012
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.040 1.000 4 2011 2017
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2004 2011
dbSNP: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2008 2008
dbSNP: rs63750447
rs63750447
MLH1
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2003 2003
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2015 2019
dbSNP: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2015 2015
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2015 2015
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		0.010 < 0.001 1 2004 2004
dbSNP: rs4986984
rs4986984
MLH1
0.882 0.080 3 37012071 missense variant C/A;T snv 3.7E-04
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.010 1.000 1 2001 2001
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 < 0.001 1 2005 2005
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.040 0.750 4 2008 2017
dbSNP: rs1418586322
rs1418586322
MLH1
0.827 0.160 3 37050495 missense variant C/G snv 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2003 2003
dbSNP: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 < 0.001 1 2017 2017
dbSNP: rs63751701
rs63751701
MLH1 ; EPM2AIP1
0.925 0.080 3 36993663 stop gained G/A;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs779795819
rs779795819
MLH1
0.925 0.080 3 37048526 frameshift variant -/ATTG delins 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs876658198
rs876658198
MLH1
0.925 0.080 3 37028855 missense variant G/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs587778966
rs587778966
MLH1
0.925 0.160 3 36996698 frameshift variant -/C delins
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs63750206
rs63750206
MLH1
0.807 0.200 3 36996701 missense variant G/A;C;T snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.090 0.778 9 2010 2019