rs387906274, CDK5RAP2

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.
Autosomal Recessive Primary Microcephaly
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
99 0.925 0.120 9 120419975 intron variant T/C snv 1.6E-05 7.0E-06 0.700 0
Microcephaly, Primary Autosomal Recessive, 3
CUI: C1858108
Disease: Microcephaly, Primary Autosomal Recessive, 3
15 0.925 0.120 9 120419975 intron variant T/C snv 1.6E-05 7.0E-06 0.700 0