MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Bardet-Biedl 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: rs200865108
rs200865108 		1.000 0.120 17 58207143 missense variant A/G snv 4.2E-04 1.5E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201619500
rs201619500 		1.000 0.120 17 58207104 missense variant C/T snv 2.2E-03 2.3E-03
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0