rs587777682, TNXB

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.
Ehlers-Danlos syndrome caused by tenascin-X deficiency
CUI: C1848029
Disease: Ehlers-Danlos syndrome caused by tenascin-X deficiency
3 0.925 0.160 6 32042353 missense variant G/A snv 4.1E-06 0.700 1.000 3 2001 2013
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1
CUI: C4693985
Disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1
3 0.925 0.160 6 32042353 missense variant G/A snv 4.1E-06 0.700 0