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 15 40200239 splice region variant A/G snv 0.700 0
PREMATURE CHROMATID SEPARATION TRAIT
CUI: C1864389
Disease: PREMATURE CHROMATID SEPARATION TRAIT
10 0.925 0.040 15 40200239 splice region variant A/G snv 0.700 0