XK, X-linked Kx blood group, 7504

N. diseases: 104; N. variants: 3
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: rs28933690
rs28933690 		1.000 0.080 X 37728007 missense variant T/C snv
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2001 2003
dbSNP: rs104894953
rs104894953 		1.000 0.080 X 37728068 stop gained G/A snv
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs104894954
rs104894954 		1.000 0.080 X 37728022 stop gained C/T snv
CUI: C0398568
Disease: Blood group deletion syndrome
Blood group deletion syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0