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: 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: rs267606919
rs267606919
1.000 0.080 19 35831056 stop gained G/A snv 9.9E-05
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 3 2002 2008