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.
Cutis Laxa, Autosomal Recessive, Type IIA
CUI: C0268355
Disease: Cutis Laxa, Autosomal Recessive, Type IIA
10 0.925 0.080 12 123722449 splice donor variant G/A;T snv 1.2E-05 0.700 1.000 1 2008 2008
Wrinkly skin syndrome
CUI: C0406587
Disease: Wrinkly skin syndrome
1 0.925 0.080 12 123722449 splice donor variant G/A;T snv 1.2E-05 0.700 0