rs606231133, DOK7

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.
Congenital myasthenic syndrome ib
CUI: C1850792
Disease: Congenital myasthenic syndrome ib
30 0.925 0.120 4 3493359 frameshift variant C/-;CC delins 0.700 1.000 2 2006 2008
Pena-Shokeir syndrome type I
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
21 0.925 0.120 4 3493359 frameshift variant C/-;CC delins 0.700 1.000 2 2006 2008