rs121912893, COL2A1

N. diseases: 15
Source: CLINVAR ×
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.
Achondrogenesis type 2
CUI: C0220685
Disease: Achondrogenesis type 2
11 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
6 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Czech dysplasia, metatarsal type
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
4 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
4 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Kniest dysplasia
CUI: C0265279
Disease: Kniest dysplasia
6 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Legg-Calve-Perthes Disease
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
7 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Namaqualand hip dysplasia
CUI: C0432214
Disease: Namaqualand hip dysplasia
4 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
4 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
2 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Spondyloepiphyseal dysplasia, congenita
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
24 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
5 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Spondyloperipheral dysplasia short ulna
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
8 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Stickler syndrome, type 1
CUI: C2020284
Disease: Stickler syndrome, type 1
21 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Stickler Syndrome, Type I, Nonsyndromic Ocular
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
8 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0
Strudwick syndrome
CUI: C0700635
Disease: Strudwick syndrome
18 0.708 0.400 12 47983721 stop gained G/A;T snv 0.700 0