rs1560267428, ECM1

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.
Lipoid Proteinosis of Urbach and Wiethe
CUI: C0023795
Disease: Lipoid Proteinosis of Urbach and Wiethe
16 1.000 0.080 1 150513236 splice acceptor variant G/T snv 0.700 0