NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
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: rs137852920
rs137852920
1.000 0.080 1 5904716 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0021359
Disease: Infertility
Infertility
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0