rs1558479778, KDM5B

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.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
CUI: C4748219
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
5 1.000 1 202733511 frameshift variant G/- delins 0.700 0