NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
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: rs3814995
rs3814995 		19 35851310 missense variant C/G;T snv 4.0E-06; 0.32
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs386833945
rs386833945 		0.882 0.080 19 35850987 missense variant G/A snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 15 1998 2016
dbSNP: rs114896482
rs114896482 		0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs114896482
rs114896482 		0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2004 2004
dbSNP: rs35238405
rs35238405 		0.882 0.080 19 35849565 missense variant T/C snv 8.0E-04 2.6E-03
CUI: C0854078
Disease: Diabetic end stage renal disease
Diabetic end stage renal disease 		0.010 1.000 1 2014 2014
dbSNP: rs35238405
rs35238405 		0.882 0.080 19 35849565 missense variant T/C snv 8.0E-04 2.6E-03
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs35238405
rs35238405 		0.882 0.080 19 35849565 missense variant T/C snv 8.0E-04 2.6E-03
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs114896482
rs114896482 		0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs386833945
rs386833945 		0.882 0.080 19 35850987 missense variant G/A snv
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs386833945
rs386833945 		0.882 0.080 19 35850987 missense variant G/A snv
CUI: C0445118
Disease: Nephrotic range proteinuria
Nephrotic range proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs386833945
rs386833945 		0.882 0.080 19 35850987 missense variant G/A snv
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs386833895
rs386833895 		0.925 0.080 19 35845430 missense variant C/A snv 3.6E-05 7.0E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 19 1998 2016
dbSNP: rs763972372
rs763972372 		0.925 0.080 19 35849060 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 6 2005 2017
dbSNP: rs115308424
rs115308424 		0.925 0.240 19 35849273 missense variant C/T snv 1.4E-03 6.2E-04
CUI: C0403548
Disease: Salcedo syndrome
Salcedo syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs115308424
rs115308424 		0.925 0.240 19 35849273 missense variant C/T snv 1.4E-03 6.2E-04
CUI: C0022739
Disease: Klippel-Trenaunay-Weber Syndrome
Klippel-Trenaunay-Weber Syndrome 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs115489112
rs115489112 		0.925 0.080 19 35830918 missense variant G/A snv 4.3E-04 1.6E-03
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs115489112
rs115489112 		0.925 0.080 19 35830918 missense variant G/A snv 4.3E-04 1.6E-03
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs146400394
rs146400394 		0.925 0.080 19 35842486 missense variant C/T snv 6.8E-05 4.9E-05
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs146400394
rs146400394 		0.925 0.080 19 35842486 missense variant C/T snv 6.8E-05 4.9E-05
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs386833895
rs386833895 		0.925 0.080 19 35845430 missense variant C/A snv 3.6E-05 7.0E-05
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs763972372
rs763972372 		0.925 0.080 19 35849060 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1131692245
rs1131692245 		0.925 0.160 19 35844109 missense variant C/T snv
CUI: C0003962
Disease: Ascites
Ascites 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1131692245
rs1131692245 		0.925 0.160 19 35844109 missense variant C/T snv
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 0
dbSNP: rs1131692245
rs1131692245 		0.925 0.160 19 35844109 missense variant C/T snv
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1131692245
rs1131692245 		0.925 0.160 19 35844109 missense variant C/T snv
CUI: C0033687
Disease: Proteinuria
Proteinuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0