rs1166323407, CEP57

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.
Mosaic variegated aneuploidy syndrome 1
CUI: C1850343
Disease: Mosaic variegated aneuploidy syndrome 1
20 0.925 0.040 11 95827811 frameshift variant -/CAATGTTCAGC delins 6.0E-05 2.1E-05 0.700 0
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
CUI: C3279843
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
3 0.925 0.040 11 95827811 frameshift variant -/CAATGTTCAGC delins 6.0E-05 2.1E-05 0.700 0