rs72656355, COL1A2

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.
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.882 0.200 7 94401565 splice acceptor variant A/G snv 0.700 1.000 7 1984 2017
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.882 0.200 7 94401565 splice acceptor variant A/G snv 0.700 1.000 7 1984 2017
EDS VIIB
CUI: C1851801
Disease: EDS VIIB
7 0.882 0.200 7 94401565 splice acceptor variant A/G snv 0.700 0