rs1057519929
|
0.776 |
0.320 |
3 |
179199066 |
missense variant |
G/A
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121913287
|
0.752 |
0.400 |
3 |
179199088 |
missense variant |
G/A
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs863225460
|
0.882 |
0.200 |
3 |
179199160 |
missense variant |
T/A
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2012 |
2016 |
rs1064793732
|
0.882 |
0.320 |
3 |
179204536 |
missense variant |
G/A
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2012 |
2016 |
rs397514565
|
0.882 |
0.240 |
3 |
179204576 |
missense variant |
G/A
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2012 |
2016 |
rs587776933
|
1.000 |
0.200 |
3 |
179210290 |
inframe deletion |
AGA/-
|
delins
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057519925
|
0.683 |
0.560 |
3 |
179210291 |
missense variant |
G/A;C
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs104886003
|
0.562 |
0.440 |
3 |
179218303 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
2 |
2012 |
2016 |
rs867262025
|
0.790 |
0.360 |
3 |
179221146 |
missense variant |
G/A
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587776932
|
0.925 |
0.280 |
3 |
179230077 |
missense variant |
G/A
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs121913288
|
1.000 |
0.200 |
3 |
179234219 |
missense variant |
A/G
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397517202
|
0.851 |
0.320 |
3 |
179234230 |
missense variant |
A/G
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2012 |
2016 |
rs1242945375
|
1.000 |
0.200 |
3 |
179234261 |
missense variant |
C/T
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121913283
|
0.724 |
0.440 |
3 |
179234286 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs121913281
|
0.623 |
0.520 |
3 |
179234296 |
missense variant |
C/T
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.800 |
|
0 |
|
|
rs121913277
|
0.925 |
0.280 |
3 |
179234302 |
missense variant |
G/A;C
|
snv
|
|
|
Megalencephaly cutis marmorata telangiectatica congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|