BTC, betacellulin, 685

N. diseases: 51; N. variants: 6
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: rs4585380
rs4585380 		1.000 0.040 4 74748153 splice region variant G/A snv 0.22 0.25
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs59882675
rs59882675 		4 74763902 intron variant A/G snv 0.23
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs62316310
rs62316310 		4 74751319 intron variant G/A snv 0.25
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs28549760
rs28549760 		1.000 0.080 4 74794307 missense variant A/C snv 0.19 0.25
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2005 2006
dbSNP: rs11938093
rs11938093 		1.000 0.080 4 74750631 missense variant A/T snv 0.22 0.25
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs56320257
rs56320257 		1.000 0.080 4 74770091 missense variant G/A;T snv 7.2E-03 3.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006