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: rs138034837
rs138034837
FXN
0.925 0.120 9 69072622 missense variant C/T snv
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
FRIEDREICH ATAXIA 1 		0.710 1.000 1 2020 2020
dbSNP: rs138034837
rs138034837
FXN
0.925 0.120 9 69072622 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 1.000 1 2020 2020