rs1186920009, 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
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
14 0.925 0.200 7 94427227 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
Lobstein Disease
CUI: C0023931
Disease: Lobstein Disease
257 0.925 0.200 7 94427227 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017