AXL, AXL receptor tyrosine kinase, 558

N. diseases: 203; N. variants: 6
Disease: Kallmann Syndrome ×
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: rs141929169
rs141929169 		1.000 0.160 19 41238557 missense variant A/C snv 1.5E-03 1.4E-03
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 2014 2014