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: rs773387490
rs773387490
1.000 0.120 1 37945756 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C1845167
Disease: Dent Disease 2
Dent Disease 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016