rs1060505030, TAF13

N. diseases: 4
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 60
CUI: C4479476
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
2 0.882 0.240 1 109075001 missense variant A/G;T snv 0.800 1.000 1 2017 2017
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.882 0.240 1 109075001 missense variant A/G;T snv 0.700 0
Delayed Puberty
CUI: C0034012
Disease: Delayed Puberty
21 0.882 0.240 1 109075001 missense variant A/G;T snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.882 0.240 1 109075001 missense variant A/G;T snv 0.700 0