Source: UNIPROT

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: rs80338764
rs80338764
COL5A1 ; LOC101448202
0.925 9 134824817 missense variant G/C snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.800 1.000 5 1997 2009
dbSNP: rs72645347
rs72645347
COL1A1
0.790 0.280 17 50196337 missense variant G/A snv
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 1.000 2 2000 2007
dbSNP: rs61735045
rs61735045
COL5A1
0.882 0.160 9 134750808 missense variant G/A snv 3.5E-02 3.1E-02
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 0