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: rs1009762900
rs1009762900
1.000 0.080 19 35831763 splice acceptor variant C/A;T snv
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1054950770
rs1054950770
1.000 0.080 19 35851260 splice donor variant A/G snv 7.0E-06
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516637
rs1057516637
1.000 0.080 19 35835755 frameshift variant -/G delins
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516776
rs1057516776
1.000 0.080 19 35848147 stop gained C/T snv
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516918
rs1057516918
1.000 0.080 19 35848112 frameshift variant C/- delins
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516942
rs1057516942
1.000 0.080 19 35851557 frameshift variant A/- del
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517021
rs1057517021
1.000 0.080 19 35845681 frameshift variant T/- delins 7.0E-06
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517022
rs1057517022
1.000 0.080 19 35844419 frameshift variant G/- delins 7.0E-06
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517275
rs1057517275
1.000 0.080 19 35850377 frameshift variant C/- delins
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517413
rs1057517413
1.000 0.080 19 35848795 splice acceptor variant C/G snv
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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
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
dbSNP: rs1131692245
rs1131692245
0.925 0.160 19 35844109 missense variant C/T snv
CUI: C0032285
Disease: Pneumonia
Pneumonia
Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1131692245
rs1131692245
0.925 0.160 19 35844109 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
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: rs113825926
rs113825926
1.000 0.080 19 35849107 missense variant G/A snv 7.7E-03 8.5E-03
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs114203578
rs114203578
1.000 0.080 19 35842480 missense variant C/G;T snv 6.8E-05
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 0
dbSNP: rs114849139
rs114849139
1.000 0.080 19 35839554 missense variant C/G;T snv 1.1E-03; 8.0E-05
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs114896482
rs114896482
0.882 0.080 19 35842487 missense variant G/A snv 2.3E-03 1.5E-03
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs139954720
rs139954720
1.000 0.080 19 35852305 intron variant TCTCTCTCTCTC/-;TCTC;TCTCTC;TCTCTCTC;TCTCTCTCTC;TCTCTCTCTCTCTC;TCTCTCTCTCTCTCTC;TCTCTCTCTCTCTCTCTC delins
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555758856
rs1555758856
1.000 0.080 19 35830843 splice donor variant C/T snv
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555761997
rs1555761997
1.000 0.080 19 35842246 frameshift variant A/- del
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1555762591
rs1555762591
1.000 0.080 19 35845668 splice donor variant C/T snv
Finnish congenital nephrotic syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0