Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118203965
rs118203965 		0.925 0.040 20 33850969 missense variant A/T snv
CUI: C1854311
Disease: Cataract, posterior polar, 3
Cataract, posterior polar, 3 		Eye Diseases 0.800 0
dbSNP: rs118203966
rs118203966 		0.882 0.040 20 33851064 missense variant G/A snv
CUI: C1854311
Disease: Cataract, posterior polar, 3
Cataract, posterior polar, 3 		Eye Diseases 0.800 0
dbSNP: rs13043926
rs13043926 		20 33832650 intron variant G/C snv 0.17
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs13043926
rs13043926 		20 33832650 intron variant G/C snv 0.17
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2747539
rs2747539 		20 33830562 intron variant C/T snv 0.15
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2747539
rs2747539 		20 33830562 intron variant C/T snv 0.15
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4911368
rs4911368 		20 33833936 intron variant G/A snv 0.15
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4911368
rs4911368 		20 33833936 intron variant G/A snv 0.15
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6087528
rs6087528 		20 33823138 intron variant T/A snv 0.10
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6087528
rs6087528 		20 33823138 intron variant T/A snv 0.10
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6088314
rs6088314 		20 33836254 intron variant T/C snv 0.10
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs6088314
rs6088314 		20 33836254 intron variant T/C snv 0.10
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs62209625
rs62209625 		20 33810284 intron variant A/G snv 0.13
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs7274168
rs7274168 		1.000 0.080 20 33848172 intron variant C/T snv 0.50
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs118203965
rs118203965 		0.925 0.040 20 33850969 missense variant A/T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2020 2020
dbSNP: rs118203966
rs118203966 		0.882 0.040 20 33851064 missense variant G/A snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs118203966
rs118203966 		0.882 0.040 20 33851064 missense variant G/A snv
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs751634469
rs751634469 		1.000 0.040 20 33811532 missense variant C/A;T snv 4.2E-06; 8.5E-06
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2012 2012