Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61735045
rs61735045
COL5A1
0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.020 1.000 2 2000 2002
dbSNP: rs61735045
rs61735045
COL5A1
0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2018 2018