rs879255517, KATNB1

N. diseases: 1
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.
LISSENCEPHALY 6 WITH MICROCEPHALY
CUI: C4015525
Disease: LISSENCEPHALY 6 WITH MICROCEPHALY
6 1.000 16 57751654 frameshift variant C/- delins 0.700 0