rs587783390, 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.
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.925 0.120 9 120409290 stop gained G/A snv 2.6E-05 7.0E-06 0.010 1.000 1 2013 2013
Microcephaly, Primary Autosomal Recessive, 3
CUI: C1858108
Disease: Microcephaly, Primary Autosomal Recessive, 3
15 0.925 0.120 9 120409290 stop gained G/A snv 2.6E-05 7.0E-06 0.700 0