rs1057518908, COL2A1

N. diseases: 6
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.
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
Hip Dysplasia
CUI: C1328407
Disease: Hip Dysplasia
16 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
Hypoplastic acetabulae
CUI: C1846442
Disease: Hypoplastic acetabulae
1 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
Multiple Epiphyseal Dysplasia
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
7 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.120 12 47984112 missense variant C/T snv 0.700 0