rs63751422, PMS2

N. diseases: 7
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.
Hereditary Nonpolyposis Colorectal Cancer
1331 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 10 2005 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 6 2005 2016
Hereditary Nonpolyposis Colorectal Neoplasms
875 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 5 2005 2016
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
70 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
Pulmonary Valve Insufficiency
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
2 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
Turcot syndrome (disorder)
CUI: C0265325
Disease: Turcot syndrome (disorder)
75 0.882 0.280 7 5986838 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0