rs121912876
|
0.925 |
0.280 |
12 |
47994041 |
missense variant |
G/A
|
snv
|
|
|
Czech dysplasia, metatarsal type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.840 |
1.000 |
6 |
1993 |
2016 |
rs121912891
|
0.882 |
0.080 |
12 |
47976052 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Legg-Calve-Perthes Disease
|
Musculoskeletal Diseases
|
0.820 |
1.000 |
2 |
2007 |
2010 |
rs869312907
|
0.925 |
0.040 |
12 |
47995910 |
missense variant |
C/T
|
snv
|
|
|
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
|
|
0.810 |
1.000 |
1 |
2015 |
2015 |
rs121912870
|
1.000 |
0.080 |
12 |
47975971 |
missense variant |
C/T
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912874
|
0.716 |
0.400 |
12 |
47978329 |
missense variant |
G/A
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912878
|
1.000 |
0.080 |
12 |
47978389 |
missense variant |
C/T
|
snv
|
|
|
Achondrogenesis type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2007 |
rs121912879
|
0.925 |
0.080 |
12 |
47980017 |
missense variant |
C/G
|
snv
|
|
|
Achondrogenesis type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2007 |
rs121912883
|
1.000 |
0.080 |
12 |
47976043 |
missense variant |
C/G
|
snv
|
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912886
|
0.925 |
0.080 |
12 |
47974090 |
missense variant |
G/A;T
|
snv
|
8.0E-05
|
|
Spondyloepiphyseal dysplasia, congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912888
|
1.000 |
0.080 |
12 |
47985946 |
missense variant |
C/T
|
snv
|
|
|
Achondrogenesis type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
8 |
1989 |
2007 |
rs121912865
|
1.000 |
0.080 |
12 |
47982886 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Namaqualand hip dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
4 |
1990 |
1995 |
rs121912872
|
1.000 |
0.080 |
12 |
47994440 |
missense variant |
C/T
|
snv
|
|
|
Stickler Syndrome, Type I, Nonsyndromic Ocular
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
3 |
1993 |
2008 |
rs121912884
|
1.000 |
0.240 |
12 |
47985575 |
missense variant |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
3 |
1994 |
2010 |
rs121912889
|
0.851 |
0.160 |
12 |
47974234 |
missense variant |
T/C
|
snv
|
|
|
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
3 |
2000 |
2005 |
rs121912898
|
1.000 |
0.080 |
12 |
48000041 |
missense variant |
C/T
|
snv
|
|
|
Stickler Syndrome, Type I, Nonsyndromic Ocular
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
3 |
1993 |
2008 |
rs121912875
|
1.000 |
0.080 |
12 |
47979519 |
missense variant |
C/A
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
1995 |
2005 |
rs121912877
|
1.000 |
0.240 |
12 |
47993825 |
missense variant |
C/T
|
snv
|
|
|
Kniest dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
2 |
1994 |
1996 |
rs121912880
|
0.882 |
0.080 |
12 |
47986353 |
missense variant |
C/A;T
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
1995 |
2005 |
rs121912881
|
1.000 |
0.080 |
12 |
47986388 |
missense variant |
C/A
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
1995 |
2005 |
rs121912885
|
1.000 |
0.080 |
12 |
47983435 |
missense variant |
G/A;T
|
snv
|
1.6E-05
|
|
Stickler Syndrome, Type I, Nonsyndromic Ocular
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.800 |
1.000 |
2 |
2000 |
2005 |
rs121912891
|
0.882 |
0.080 |
12 |
47976052 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
2005 |
2011 |
rs121912895
|
1.000 |
0.080 |
12 |
47978320 |
missense variant |
T/C
|
snv
|
|
|
Strudwick syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
1995 |
2005 |
rs387906558
|
1.000 |
0.080 |
12 |
47982892 |
missense variant |
C/T
|
snv
|
|
|
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
0.800 |
1.000 |
2 |
2005 |
2011 |
rs121912882
|
0.851 |
0.280 |
12 |
47979534 |
missense variant |
G/A
|
snv
|
|
|
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
1 |
1998 |
1998 |
rs121912882
|
0.851 |
0.280 |
12 |
47979534 |
missense variant |
G/A
|
snv
|
|
|
Stickler syndrome, type 1
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.710 |
1.000 |
4 |
1994 |
2018 |