rs201358272, GARS1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Charcot-Marie-Tooth disease, Type 2D
CUI: C1832274
Disease: Charcot-Marie-Tooth disease, Type 2D
9 0.925 0.080 7 30632247 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.700 1.000 6 2006 2016
Distal Spinal Muscular Atrophy
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
8 0.925 0.080 7 30632247 missense variant C/G;T snv 4.0E-06; 2.0E-04 0.010 1.000 1 2007 2007