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: rs587778967
rs587778967
MLH1 ; EPM2AIP1
0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 < 0.001 1 2009 2009
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.010 1.000 1 2009 2009
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2009 2009
dbSNP: rs63751701
rs63751701
MLH1 ; EPM2AIP1
0.925 0.080 3 36993663 stop gained G/A;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2009 2009
dbSNP: rs63751701
rs63751701
MLH1 ; EPM2AIP1
0.925 0.080 3 36993663 stop gained G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2009 2009
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: rs1389945622
rs1389945622
MLH1 ; EPM2AIP1
3 36993560 missense variant G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2011 2011
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		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: 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: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		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: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs63750656
rs63750656
MLH1 ; EPM2AIP1
0.882 0.160 3 36993632 missense variant G/T snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.010 1.000 1 2014 2014
dbSNP: rs63750656
rs63750656
MLH1 ; EPM2AIP1
0.882 0.160 3 36993632 missense variant G/T snv
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 0.500 2 2009 2015
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
0.925 0.200 3 36993548 start lost A/C;G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 0.500 2 2009 2015
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		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: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0021364
Disease: Male infertility
Male infertility 		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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
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: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.040 1.000 4 2011 2017
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: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.040 1.000 4 2011 2017
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