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: 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: 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: 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: 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