rs1365573219, ALDH18A1

N. diseases: 1
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 Dominant
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
3 1.000 0.080 10 95626722 missense variant G/C snv 7.0E-06 0.010 1.000 1 2017 2017