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.
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
14 1.000 0.040 1 219928039 inframe deletion AGCAGCCCCACCACGTTGACCAACAGCCCCAGGACGCCGACGATGAGCACCAGCTCGGGGTCATCGATGCGCTCGGGCCGGGCCAGGCGCAGCACGGCCTCCACGAAGATG/- delins 0.700 0