rs121912889, COL2A1

N. diseases: 4
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.
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
4 0.851 0.160 12 47974234 missense variant T/C snv 0.800 1.000 3 2000 2005
Spondyloperipheral dysplasia short ulna
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
8 0.851 0.160 12 47974234 missense variant T/C snv 0.710 1.000 1 2007 2007
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.851 0.160 12 47974234 missense variant T/C snv 0.010 1.000 1 2007 2007
Symphysis Pubis Dysfunction
CUI: C2609259
Disease: Symphysis Pubis Dysfunction
4 0.851 0.160 12 47974234 missense variant T/C snv 0.010 1.000 1 2007 2007