rs121912946, COL11A2

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.
Pierre Robin syndrome with fetal chondrodysplasia
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
1 0.925 0.160 6 33166736 missense variant C/T snv 0.700 1.000 3 1995 1998
Stickler syndrome, type 3
CUI: C1861481
Disease: Stickler syndrome, type 3
4 0.925 0.160 6 33166736 missense variant C/T snv 0.700 0