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: rs5918500
rs5918500 		1.000 0.040 X 38209996 intron variant C/T snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs756386867
rs756386867 		X 38160977 missense variant C/G snv 1.1E-05 9.5E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1123773
rs1123773 		1.000 0.080 X 38161035 missense variant G/A snv 9.4E-03 8.9E-03
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 1995 1995