rs61735045, COL5A1

N. diseases: 3
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.
Agenesis
CUI: C0000846
Disease: Agenesis
44 0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 0.010 1.000 1 2018 2018
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 0.020 1.000 2 2000 2002
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02 0.700 0