rs863223491, COL5A2

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, CLASSIC TYPE, 1
81 0.925 0.160 2 189062865 splice region variant C/T snv 0.700 1.000 1 2013 2013
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.925 0.160 2 189062865 splice region variant C/T snv 0.010 1.000 1 2019 2019