Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909079
rs121909079
RAB7A
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) 		0.820 1.000 8 2003 2016
dbSNP: rs121909078
rs121909078
RAB7A
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) 		0.820 1.000 5 2003 2014
dbSNP: rs121909080
rs121909080
RAB7A
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) 		0.800 1.000 5 2003 2010
dbSNP: rs121909081
rs121909081
RAB7A
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) 		0.800 1.000 5 2003 2010