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: 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: 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: rs2071327
rs2071327
1.000 0.080 19 35831368 synonymous variant C/T snv 0.40 0.32
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2285450
rs2285450
1.000 0.080 19 35851365 synonymous variant G/A snv 2.2E-02 4.1E-02
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
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: rs35423326
rs35423326
1.000 0.120 19 35861122 missense variant G/A snv 2.9E-02 3.0E-02
CUI: C0403440
Disease: Thin basement membrane disease
Thin basement membrane disease
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
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: 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: rs437168
rs437168
1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs437168
rs437168
1.000 0.080 19 35843517 synonymous variant G/A;C snv 7.9E-02; 1.2E-05
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4806213
rs4806213
1.000 0.080 19 35831699 missense variant T/C snv 9.7E-02 0.11
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2019 2019
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: rs778552202
rs778552202
1.000 0.080 19 35849643 missense variant G/A snv 3.6E-05 7.0E-06
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs962888148
rs962888148
1.000 0.080 19 35848313 missense variant C/A;T snv 4.0E-06
CUI: C3501848
Disease: Nephrosis, congenital
Nephrosis, congenital
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs143649022
rs143649022
1.000 0.080 19 35841802 missense variant A/G snv 4.0E-06 2.8E-05
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
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
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 15 1998 2016
dbSNP: rs267606918
rs267606918
1.000 0.080 19 35842421 missense variant C/T snv 1.6E-05 7.0E-06
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 15 1998 2016