rs794729201, ELN

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 7 74068685 frameshift variant C/- delins 0.700 1.000 3 1997 2011