rs749343808, CENPJ

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, Primary Autosomal Recessive, 6
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
11 0.925 0.120 13 24899538 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
SECKEL SYNDROME 4
CUI: C3888212
Disease: SECKEL SYNDROME 4
13 0.925 0.120 13 24899538 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0