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: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.030 0.667 3 2004 2009
dbSNP: rs63749795
rs63749795
MLH1
0.807 0.240 3 37028833 stop gained C/T snv
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.710 1.000 1 2019 2019
dbSNP: rs63750447
rs63750447
MLH1
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs63750447
rs63750447
MLH1
0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs4986984
rs4986984
MLH1
0.882 0.080 3 37012071 missense variant C/A;T snv 3.7E-04
CUI: C1515091
Disease: Surgically-Created Resection Cavity
Surgically-Created Resection Cavity 		0.010 1.000 1 2016 2016
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 1.000 2 2016 2017
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs587778883
rs587778883
MLH1
0.807 0.200 3 37025648 frameshift variant A/- del
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs63750114
rs63750114
MLH1
0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.010 1.000 1 2004 2004
dbSNP: rs56250509
rs56250509
MLH1
0.790 0.160 3 37014530 missense variant T/C snv 2.0E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.030 1.000 3 2008 2012
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 < 0.001 1 2017 2017
dbSNP: rs1064793400
rs1064793400
MLH1
1.000 0.040 3 37048550 missense variant G/A snv
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs779759678
rs779759678
MLH1 ; EPM2AIP1
1.000 0.040 3 36993556 missense variant C/G snv 4.0E-06 3.5E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		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: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 < 0.001 1 2004 2004
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		0.010 1.000 1 2014 2014
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2018 2018
dbSNP: rs63751428
rs63751428
MLH1
0.882 0.160 3 36996686 stop gained C/A;T snv
CUI: C1368816
Disease: Sebaceous adenoma
Sebaceous adenoma 		0.010 1.000 1 2016 2016
dbSNP: rs876660952
rs876660952
MLH1
1.000 0.040 3 37028854 missense variant T/G snv 4.0E-06
CUI: C1368816
Disease: Sebaceous adenoma
Sebaceous adenoma 		0.010 1.000 1 2016 2016
dbSNP: rs63750114
rs63750114
MLH1
0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs876658657
rs876658657
MLH1
0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia 		0.010 1.000 1 2006 2006
dbSNP: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017