rs121909093, DNM2

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, DOMINANT INTERMEDIATE B (disorder)
CUI: C1847902
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)
13 0.925 0.080 19 10812315 missense variant G/A;T snv 0.800 1.000 2 2007 2008
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.925 0.080 19 10812315 missense variant G/A;T snv 0.700 0