rs267606801, FBN1

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.
Stiff Skin Syndrome
CUI: C1861456
Disease: Stiff Skin Syndrome
26 1.000 0.120 15 48467956 missense variant A/C snv 0.700 0