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: 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
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.050 1.000 5 2008 2019
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2008 2019
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
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 1.000 2 2016 2017
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 1.000 2 2015 2019
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2017
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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2017 2017
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome 		0.010 1.000 1 2019 2019
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: C0278498
Disease: Malignant neoplasm of stomach stage IV
Malignant neoplasm of stomach stage IV 		0.010 1.000 1 2018 2018
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0028960
Disease: Oligospermia
Oligospermia 		0.010 1.000 1 2019 2019
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C0432209
Disease: Dyssegmental dysplasia, Rolland-Desbuquois type
Dyssegmental dysplasia, Rolland-Desbuquois type 		0.010 1.000 1 2019 2019
dbSNP: rs1800734
rs1800734
MLH1 ; EPM2AIP1
0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2017 2017
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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 < 0.001 1 2017 2017
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: 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: 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