WDR11, WD repeat domain 11, 55717

N. diseases: 179; N. variants: 8
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: rs1269636220
rs1269636220
0.851 0.280 10 120865109 missense variant A/G snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015