MYOCD, myocardin, 93649

N. diseases: 79; N. variants: 7
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: rs72811294
rs72811294 		1.000 0.080 17 12715363 intron variant G/A;C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs1984481
rs1984481 		17 12734425 intron variant G/A;C;T snv
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2018 2018
dbSNP: rs35712872
rs35712872 		17 12732554 intron variant A/G snv 0.20
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2019 2019
dbSNP: rs9913758
rs9913758 		17 12763404 synonymous variant C/G;T snv 6.5E-03; 4.1E-06 2.6E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9913758
rs9913758 		17 12763404 synonymous variant C/G;T snv 6.5E-03; 4.1E-06 2.6E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9913758
rs9913758 		17 12763404 synonymous variant C/G;T snv 6.5E-03; 4.1E-06 2.6E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9913758
rs9913758 		17 12763404 synonymous variant C/G;T snv 6.5E-03; 4.1E-06 2.6E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs137939966
rs137939966 		17 12752540 missense variant A/G snv 1.6E-04 8.4E-04
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs137939966
rs137939966 		17 12752540 missense variant A/G snv 1.6E-04 8.4E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1714984
rs1714984 		1.000 0.080 17 12714384 intron variant A/G;T snv
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs760414580
rs760414580 		17 12744241 missense variant A/G snv 1.0E-04 1.4E-05
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2008 2008