KLHL7, kelch like family member 7, 55975

N. diseases: 135; N. variants: 14
Disease: RETINITIS PIGMENTOSA 42 ×
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: rs137853112
rs137853112 		0.925 0.080 7 23140775 missense variant G/A snv
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2009 2011
dbSNP: rs137853113
rs137853113 		0.925 0.080 7 23140784 missense variant C/T snv
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2009 2011
dbSNP: rs137853114
rs137853114 		0.925 0.080 7 23140783 missense variant G/A snv
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 4 2009 2011