CCDC97, coiled-coil domain containing 97, 90324

N. diseases: 2; N. variants: 5
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: rs56254331
rs56254331 		19 41320115 intron variant A/C;G snv 0.11
CUI: C0018965
Disease: Hematuria
Hematuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs73045269
rs73045269 		1.000 0.040 19 41319286 intron variant C/T snv 0.11
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2241718
rs2241718 		0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 0.667 3 2011 2017
dbSNP: rs6957
rs6957 		1.000 0.040 19 41324701 3 prime UTR variant T/C snv 0.21
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 1.000 2 2012 2017
dbSNP: rs2241718
rs2241718 		0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2241718
rs2241718 		0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15
CUI: C0221227
Disease: Centriacinar Emphysema
Centriacinar Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2241718
rs2241718 		0.882 0.040 19 41323701 3 prime UTR variant G/A snv 0.15
CUI: C0264394
Disease: Paraseptal emphysema
Paraseptal emphysema 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2241719
rs2241719 		19 41323676 3 prime UTR variant T/A;C snv
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2011 2011