rs2277923, NKX2-5

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.050 1.000 5 2013 2016
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.030 1.000 3 2013 2019
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.020 1.000 2 2016 2019
Acquired hypothyroidism
CUI: C0700502
Disease: Acquired hypothyroidism
2 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
Bicuspid aortic valve
CUI: C0149630
Disease: Bicuspid aortic valve
23 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2016 2016
Congenital thyroid hypoplasia
CUI: C0342153
Disease: Congenital thyroid hypoplasia
5 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2019 2019
Patent ductus arteriosus - persisting type
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
10 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2019 2019
Primary Hypothyroidism
CUI: C4316995
Disease: Primary Hypothyroidism
3 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2018 2018
Thyroid Hypoplasia
CUI: C0151516
Disease: Thyroid Hypoplasia
6 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2018 2018