NFATC1, nuclear factor of activated T cells 1, 4772

N. diseases: 161; N. variants: 23
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: rs8096658
rs8096658 		0.925 0.120 18 79396537 intron variant C/G snv 0.39
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 5 2016 2019
dbSNP: rs8091180
rs8091180 		1.000 0.160 18 79404243 intron variant G/A snv 0.46
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2016 2019
dbSNP: rs112187368
rs112187368 		1.000 0.040 18 79476259 intron variant G/A snv 0.10
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11660937
rs11660937 		18 79458926 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11665469
rs11665469 		18 79454468 intron variant C/T snv 0.30
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs160189
rs160189 		18 79472709 intron variant A/G snv 0.41
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs549752
rs549752 		18 79398225 intron variant A/G snv 0.40
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs549752
rs549752 		18 79398225 intron variant A/G snv 0.40
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs549752
rs549752 		18 79398225 intron variant A/G snv 0.40
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2018 2018
dbSNP: rs56376587
rs56376587 		18 79400235 intron variant A/C;G snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs56376587
rs56376587 		18 79400235 intron variant A/C;G snv
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs754505
rs754505 		18 79466368 intron variant G/A snv 5.6E-02
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs8090312
rs8090312 		18 79465154 intron variant A/G snv 0.40
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs8091180
rs8091180 		1.000 0.160 18 79404243 intron variant G/A snv 0.46
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs8091180
rs8091180 		1.000 0.160 18 79404243 intron variant G/A snv 0.46
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs8096658
rs8096658 		0.925 0.120 18 79396537 intron variant C/G snv 0.39
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs8096658
rs8096658 		0.925 0.120 18 79396537 intron variant C/G snv 0.39
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs8096658
rs8096658 		0.925 0.120 18 79396537 intron variant C/G snv 0.39
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs8096658
rs8096658 		0.925 0.120 18 79396537 intron variant C/G snv 0.39
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs141310123
rs141310123 		0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs141310123
rs141310123 		0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs141310123
rs141310123 		0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs141310123
rs141310123 		0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs367652299
rs367652299 		0.882 0.120 18 79411375 missense variant C/T snv 3.3E-05 2.1E-05
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs367652299
rs367652299 		0.882 0.120 18 79411375 missense variant C/T snv 3.3E-05 2.1E-05
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018