MYL4, myosin light chain 4, 4635

N. diseases: 26; 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: rs886037778
rs886037778
1.000 17 47209453 missense variant G/A snv
CUI: C4310636
Disease: ATRIAL FIBRILLATION, FAMILIAL, 18
ATRIAL FIBRILLATION, FAMILIAL, 18
0.700 1.000 1 2016 2016
dbSNP: rs886037778
rs886037778
1.000 17 47209453 missense variant G/A snv
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1515751
rs1515751
1.000 0.080 17 47215068 intron variant A/G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1515752
rs1515752
17 47211459 intron variant G/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2071438
rs2071438
17 47208108 intron variant G/A snv 0.67
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4968309
rs4968309
0.925 0.120 17 47222852 intron variant C/T snv 0.63
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4968309
rs4968309
0.925 0.120 17 47222852 intron variant C/T snv 0.63
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4968309
rs4968309
0.925 0.120 17 47222852 intron variant C/T snv 0.63
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019