rs1554396615, COL1A2

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
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
81 0.925 0.120 7 94412683 splice donor variant G/C snv 0.700 0
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.925 0.120 7 94412683 splice donor variant G/C snv 0.700 0