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.
Cartilage-hair hypoplasia
CUI: C0220748
Disease: Cartilage-hair hypoplasia
77 0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05 0.700 1.000 5 2002 2007
Anauxetic dysplasia
CUI: C1846796
Disease: Anauxetic dysplasia
18 0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05 0.700 1.000 4 2002 2007
ANAUXETIC DYSPLASIA 1
CUI: C4551965
Disease: ANAUXETIC DYSPLASIA 1
3 0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05 0.700 0
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
CUI: C1834821
Disease: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
3 0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05 0.700 0