rs756461496, GDAP1

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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 0.700 1.000 1 2014 2014
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
CUI: C1859198
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)
22 0.925 0.080 8 74364305 frameshift variant -/T delins 4.0E-06 2.1E-05 0.700 0