rs137853129
|
1.000 |
0.080 |
17 |
72122749 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.800 |
1.000 |
12 |
1995 |
2013 |
rs137853128
|
0.925 |
0.080 |
17 |
72121618 |
missense variant |
C/A
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.710 |
1.000 |
12 |
1995 |
2013 |
rs104894647
|
0.925 |
0.080 |
17 |
72122804 |
missense variant |
A/G
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1995 |
2013 |
rs137853130
|
0.925 |
0.200 |
17 |
72122759 |
missense variant |
G/A
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1995 |
2013 |
rs1407667250
|
1.000 |
0.080 |
17 |
72121727 |
missense variant |
C/A
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1995 |
2013 |
rs28940282
|
0.925 |
0.080 |
17 |
72122780 |
missense variant |
C/T
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
1.000 |
12 |
1995 |
2013 |
rs1425166755
|
1.000 |
|
17 |
72121722 |
missense variant |
G/A;C
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
11 |
1995 |
2018 |
rs104894647
|
0.925 |
0.080 |
17 |
72122804 |
missense variant |
A/G
|
snv
|
|
|
Acampomelic Campomelic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057518216
|
1.000 |
0.080 |
17 |
72124037 |
stop gained |
C/A;T
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1057518669
|
1.000 |
0.080 |
17 |
72124284 |
missense variant |
T/C
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1131691554
|
1.000 |
0.080 |
17 |
72122796 |
missense variant |
C/T
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs137853128
|
0.925 |
0.080 |
17 |
72121618 |
missense variant |
C/A
|
snv
|
|
|
Acampomelic Campomelic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs137853130
|
0.925 |
0.200 |
17 |
72122759 |
missense variant |
G/A
|
snv
|
|
|
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1555629022
|
1.000 |
0.080 |
17 |
72121643 |
stop gained |
C/G
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555629037
|
1.000 |
0.080 |
17 |
72121740 |
stop gained |
C/T
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555629158
|
1.000 |
0.080 |
17 |
72122802 |
missense variant |
A/G
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1555629443
|
1.000 |
0.080 |
17 |
72124229 |
stop gained |
C/T
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1567910689
|
1.000 |
0.080 |
17 |
72122778 |
missense variant |
A/C
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs28940282
|
0.925 |
0.080 |
17 |
72122780 |
missense variant |
C/T
|
snv
|
|
|
Acampomelic Campomelic Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs587776541
|
0.925 |
0.200 |
17 |
72123592 |
frameshift variant |
-/C
|
delins
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs587776541
|
0.925 |
0.200 |
17 |
72123592 |
frameshift variant |
-/C
|
delins
|
|
|
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs80338688
|
0.925 |
0.200 |
17 |
72124177 |
stop gained |
C/A;G;T
|
snv
|
3.3E-04
|
|
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs80338688
|
0.925 |
0.200 |
17 |
72124177 |
stop gained |
C/A;G;T
|
snv
|
3.3E-04
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs866706988
|
0.925 |
0.200 |
17 |
72122795 |
missense variant |
C/A;T
|
snv
|
|
|
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs866706988
|
0.925 |
0.200 |
17 |
72122795 |
missense variant |
C/A;T
|
snv
|
|
|
CAMPOMELIC DYSPLASIA
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|