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: 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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2014 2017
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: 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: 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: 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		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: 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: 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: 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: 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: 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: 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: 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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 1.000 1 2019 2019
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: rs876658923
rs876658923
MLH1 ; EPM2AIP1
1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.010 1.000 1 2019 2019