Source: CLINVAR

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: rs781249411
rs781249411
MARS1
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.800 1.000 0 2013 2014
dbSNP: rs781249411
rs781249411
MARS1
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0