rs80338765, FBLN5

N. diseases: 2
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 I
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
5 0.925 0.080 14 91891236 missense variant C/T snv 2.8E-04 1.2E-04 0.700 0
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.925 0.080 14 91891236 missense variant C/T snv 2.8E-04 1.2E-04 0.010 1.000 1 2010 2010