RNF43, ring finger protein 43, 54894

N. diseases: 88; N. variants: 9
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: rs34523089
rs34523089 		17 58358748 missense variant C/T snv 0.11 0.11
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs2632512
rs2632512 		17 58374461 intron variant T/C snv 0.85
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2680701
rs2680701 		17 58360940 missense variant G/A snv 0.14 0.14
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2680707
rs2680707 		17 58378280 intron variant T/C;G snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2680708
rs2680708 		1.000 0.080 17 58378759 intron variant G/A snv 0.48
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34523089
rs34523089 		17 58358748 missense variant C/T snv 0.11 0.11
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs786205215
rs786205215 		0.925 0.040 17 58363582 stop gained G/A snv
CUI: C3272797
Disease: Colon Serrated Polyposis
Colon Serrated Polyposis 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2012 2012
dbSNP: rs8070135
rs8070135 		17 58381702 intron variant G/A snv 0.30
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1567880628
rs1567880628 		1.000 17 58370949 stop gained G/A snv
CUI: C4310714
Disease: SESSILE SERRATED POLYPOSIS CANCER SYNDROME
SESSILE SERRATED POLYPOSIS CANCER SYNDROME 		0.700 0
dbSNP: rs786205215
rs786205215 		0.925 0.040 17 58363582 stop gained G/A snv
CUI: C4310714
Disease: SESSILE SERRATED POLYPOSIS CANCER SYNDROME
SESSILE SERRATED POLYPOSIS CANCER SYNDROME 		0.700 0
dbSNP: rs2257205
rs2257205 		0.925 0.080 17 58370936 missense variant C/A;T snv 4.1E-06; 4.1E-06; 0.16 0.14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs2257205
rs2257205 		0.925 0.080 17 58370936 missense variant C/A;T snv 4.1E-06; 4.1E-06; 0.16 0.14
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		Neoplasms 0.010 1.000 1 2016 2016