rs1554338260, 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 30612214 missense variant A/T snv 0.700 1.000 9 2003 2015
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.925 0.080 7 30612214 missense variant A/T snv 0.700 0