rs760730366, MPZ

N. diseases: 1
Source: CLINVAR ×
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
52 1.000 0.080 1 161307356 frameshift variant GGGAGCCC/- delins 1.2E-05 0.700 1.000 1 2014 2014