rs879253817, CIT

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.
Autosomal Recessive Primary Microcephaly
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
99 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
6 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0
Renal abnormalities
CUI: C4014891
Disease: Renal abnormalities
1 0.925 0.120 12 119876131 frameshift variant AAAGGATTCC/- delins 0.700 0