rs104894100
|
1.000 |
0.120 |
9 |
136673906 |
missense variant |
A/G
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
2 |
2002 |
2005 |
rs145975461
|
1.000 |
0.120 |
9 |
136673873 |
missense variant |
G/A;C
|
snv
|
8.4E-04;
4.3E-06;
4.3E-06
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2002 |
2005 |
rs104894093
|
1.000 |
0.120 |
9 |
136677537 |
stop gained |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517649
|
1.000 |
0.120 |
9 |
136677558 |
splice acceptor variant |
T/C
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517650
|
1.000 |
0.120 |
9 |
136687175 |
splice donor variant |
C/T
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517651
|
1.000 |
0.120 |
9 |
136677545 |
stop gained |
C/T
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517653
|
1.000 |
0.120 |
9 |
136676635 |
frameshift variant |
C/-
|
delins
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517654
|
1.000 |
0.120 |
9 |
136674733 |
splice donor variant |
A/C
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517655
|
1.000 |
0.120 |
9 |
136673913 |
stop gained |
G/A
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057517656
|
1.000 |
0.120 |
9 |
136673826 |
inframe deletion |
TCCTCATGG/-
|
delins
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057518714
|
1.000 |
0.120 |
9 |
136676670 |
stop gained |
C/T
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs116807569
|
1.000 |
0.120 |
9 |
136674809 |
splice acceptor variant |
T/C
|
snv
|
1.0E-04
|
4.2E-04
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121908925
|
1.000 |
0.120 |
9 |
136674753 |
stop gained |
T/A
|
snv
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121908926
|
1.000 |
0.120 |
9 |
136676603 |
stop gained |
G/A;T
|
snv
|
1.6E-05
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs138994150
|
1.000 |
0.120 |
9 |
136674750 |
stop gained |
T/A
|
snv
|
4.0E-04
|
1.0E-03
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1564290079
|
1.000 |
0.120 |
9 |
136674770 |
frameshift variant |
GGAGA/-
|
delins
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1564290914
|
1.000 |
0.120 |
9 |
136676660 |
frameshift variant |
G/-
|
delins
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs200656731
|
1.000 |
0.120 |
9 |
136673876 |
missense variant |
G/A;C
|
snv
|
7.3E-05;
2.6E-05
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs387906355
|
1.000 |
0.120 |
9 |
136677075 |
frameshift variant |
-/A
|
delins
|
8.0E-06
|
7.7E-05
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs387906356
|
1.000 |
0.120 |
9 |
136677033 |
inframe deletion |
AGA/-
|
delins
|
|
7.0E-06
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs606231168
|
0.925 |
0.120 |
9 |
136676681 |
splice acceptor variant |
C/G
|
snv
|
4.0E-06
|
7.0E-06
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs748157664
|
1.000 |
0.120 |
9 |
136676659 |
stop gained |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs764260414
|
0.925 |
0.120 |
9 |
136677440 |
missense variant |
C/T
|
snv
|
8.0E-06
|
1.4E-05
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs797045222
|
1.000 |
0.120 |
9 |
136677047 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs933422777
|
1.000 |
0.120 |
9 |
136676960 |
splice donor variant |
C/T
|
snv
|
1.6E-05
|
|
Congenital Generalized Lipodystrophy Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|