Source: ALL

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: rs138471431
rs138471431
FXN
0.925 0.120 9 69065016 missense variant T/C snv
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.710 1.000 1 2007 2007
dbSNP: rs138471431
rs138471431
FXN
0.925 0.120 9 69065016 missense variant T/C snv
CUI: C0016719
Disease: Friedreich Ataxia
Friedreich Ataxia 		0.010 1.000 1 2008 2008