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: 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: 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: 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: 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: rs447707
rs447707 		1.000 0.080 19 35856498 intron variant A/G snv 0.20
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
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: 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: C0013604
Disease: Edema
Edema 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs138656762
rs138656762 		1.000 0.080 19 35839418 missense variant C/A snv 4.4E-05 4.2E-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 21 1998 2016
dbSNP: rs386833880
rs386833880 		1.000 0.080 19 35848102 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 20 1998 2016
dbSNP: rs386833912
rs386833912 		1.000 0.080 19 35842468 missense variant G/T snv 8.0E-06 2.1E-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 20 1998 2019
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: rs386833909
rs386833909 		1.000 0.080 19 35843579 missense variant G/A snv 2.8E-05 5.6E-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: rs386833863
rs386833863 		1.000 0.080 19 35848759 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 17 1998 2016
dbSNP: rs386833879
rs386833879 		1.000 0.080 19 35848144 missense variant A/G;T snv 4.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 17 1998 2016
dbSNP: rs386833889
rs386833889 		1.000 0.080 19 35845711 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 17 1998 2016
dbSNP: rs386833915
rs386833915 		1.000 0.080 19 35842394 missense variant G/A snv 2.0E-05 4.9E-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 17 1998 2016
dbSNP: rs139598219
rs139598219 		1.000 0.080 19 35850407 stop gained C/A;T snv 7.2E-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 16 1998 2016
dbSNP: rs142008044
rs142008044 		1.000 0.080 19 35848334 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 5.2E-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 16 1998 2016
dbSNP: rs386833865
rs386833865 		1.000 0.080 19 35848708 missense variant G/A snv 4.0E-05 2.1E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 16 1998 2016
dbSNP: rs386833874
rs386833874 		1.000 0.080 19 35848349 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 16 1998 2016
dbSNP: rs143092783
rs143092783 		1.000 0.080 19 35831116 missense variant G/A;T snv 1.0E-04; 9.8E-04
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: rs143649022
rs143649022 		1.000 0.080 19 35841802 missense variant A/G snv 4.0E-06 2.8E-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 15 1998 2016
dbSNP: rs145125791
rs145125791 		1.000 0.080 19 35850409 missense variant T/A snv 6.0E-03 6.0E-03
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 15 1998 2016
dbSNP: rs1468337078
rs1468337078 		1.000 0.080 19 35845727 missense variant A/T snv 7.0E-06
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 15 1998 2016