rs121912950, 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.
Deafness, Autosomal Dominant 13
CUI: C1866095
Disease: Deafness, Autosomal Dominant 13
3 0.925 0.200 6 33167305 stop gained G/A snv 0.700 1.000 1 2004 2004
Stickler syndrome, type 3
CUI: C1861481
Disease: Stickler syndrome, type 3
4 0.925 0.200 6 33167305 stop gained G/A snv 0.700 0