PAX2, paired box 2, 5076

N. diseases: 216; N. variants: 29
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: rs886037754
rs886037754
1.000 0.080 10 100749819 frameshift variant GC/- delins
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015