rs1799977, MLH1

N. diseases: 28
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.050 0.800 5 2007 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.040 0.750 4 2010 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.040 0.750 4 2010 2017
Malignant neoplasm of colon and/or rectum
502 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.030 1.000 3 2007 2017
Ulcerative Colitis
CUI: C0009324
Disease: Ulcerative Colitis
827 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.030 0.667 3 2004 2009
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.020 1.000 2 2008 2014
Hereditary Nonpolyposis Colorectal Cancer
1331 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.020 1.000 2 2006 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.020 1.000 2 2008 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.020 1.000 2 2009 2015
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2008 2008
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2015 2015
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2009 2009
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
Hereditary Prostate Carcinoma
CUI: C4722328
Disease: Hereditary Prostate Carcinoma
12 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
Hyperplastic Polyp
CUI: C0333983
Disease: Hyperplastic Polyp
22 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2012 2012
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2008 2008
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2015 2015
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2017 2017
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2009 2009
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2019 2019
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2015 2015
Polyp of large intestine
CUI: C0949059
Disease: Polyp of large intestine
32 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2006 2006
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 0.010 1.000 1 2008 2008