RAB7A, RAB7A, member RAS oncogene family, 7879

N. diseases: 95; N. variants: 5
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: rs121909079
rs121909079 		1.000 0.080 3 128807627 missense variant G/A snv
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.820 1.000 8 2003 2016
dbSNP: rs121909078
rs121909078 		1.000 0.080 3 128806576 missense variant C/T snv
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.820 1.000 6 2003 2014
dbSNP: rs121909080
rs121909080 		1.000 0.080 3 128807625 missense variant A/C;G snv 4.0E-06
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2003 2010
dbSNP: rs121909081
rs121909081 		1.000 0.080 3 128807614 missense variant G/C snv
CUI: C1833219
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 5 2003 2010
dbSNP: rs13081864
rs13081864 		1.000 0.040 3 128771430 intron variant C/T snv 0.18
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever 		Infections 0.010 1.000 1 2019 2019