rs121909088, DNM2

N. diseases: 3
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 10819992 missense variant A/G snv 0.800 1.000 2 2005 2009
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
136 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009
Neuropathy
CUI: C0442874
Disease: Neuropathy
110 0.925 0.080 19 10819992 missense variant A/G snv 0.010 1.000 1 2009 2009