rs121912771
|
0.882 |
0.080 |
10 |
104034193 |
missense variant |
C/T
|
snv
|
1.1E-04
|
1.5E-04
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1996 |
2002 |
rs121912773
|
0.925 |
0.080 |
10 |
104053072 |
missense variant |
C/T
|
snv
|
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
5 |
1996 |
2002 |
rs1478395810
|
1.000 |
0.080 |
10 |
104046775 |
splice acceptor variant |
T/C
|
snv
|
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1997 |
2009 |
rs775244527
|
1.000 |
0.080 |
10 |
104036490 |
splice donor variant |
A/-
|
del
|
|
2.5E-04
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1999 |
2004 |
rs752317971
|
1.000 |
0.080 |
10 |
104043852 |
stop gained |
C/A;G
|
snv
|
8.0E-06
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1997 |
2011 |
rs760714959
|
0.925 |
0.080 |
10 |
104037688 |
synonymous variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Corneal dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.020 |
1.000 |
2 |
2016 |
2018 |
rs760714959
|
0.925 |
0.080 |
10 |
104037688 |
synonymous variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
Epithelial Recurrent Erosion Dystrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.720 |
1.000 |
2 |
2015 |
2018 |
rs11191909
|
1.000 |
0.080 |
10 |
104053243 |
intron variant |
C/T
|
snv
|
|
0.15
|
Primary biliary cirrhosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs117564807
|
|
|
10 |
104040357 |
missense variant |
C/G;T
|
snv
|
1.9E-03
|
|
Hypertensive disease
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs121912771
|
0.882 |
0.080 |
10 |
104034193 |
missense variant |
C/T
|
snv
|
1.1E-04
|
1.5E-04
|
Junctional Epidermolysis Bullosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs121912773
|
0.925 |
0.080 |
10 |
104053072 |
missense variant |
C/T
|
snv
|
|
|
Junctional Epidermolysis Bullosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs121912774
|
0.925 |
0.080 |
10 |
104072062 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Junctional Epidermolysis Bullosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs1320448
|
|
|
10 |
104086316 |
upstream gene variant |
A/G
|
snv
|
|
0.92
|
Cardiomegaly
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1320448
|
|
|
10 |
104086316 |
upstream gene variant |
A/G
|
snv
|
|
0.92
|
Cardiac Hypertrophy
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1747677
|
1.000 |
0.080 |
10 |
104055483 |
intron variant |
A/C
|
snv
|
|
0.75
|
Primary biliary cirrhosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs2274107
|
1.000 |
0.080 |
10 |
104078945 |
intron variant |
G/A
|
snv
|
|
0.14
|
Primary biliary cirrhosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs61376250
|
1.000 |
0.080 |
10 |
104055483 |
intron variant |
-/C;CAC;CACAC
|
ins
|
|
|
Primary biliary cirrhosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs747301994
|
1.000 |
0.080 |
10 |
104053097 |
stop gained |
G/A;T
|
snv
|
8.0E-06
|
|
Amelogenesis Imperfecta
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs775196743
|
1.000 |
0.080 |
10 |
104080649 |
stop gained |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs805693
|
1.000 |
0.080 |
10 |
104055566 |
intron variant |
A/G;T
|
snv
|
|
|
Primary biliary cirrhosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs805694
|
1.000 |
0.080 |
10 |
104055696 |
intron variant |
G/A
|
snv
|
|
0.74
|
Primary biliary cirrhosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs805722
|
1.000 |
0.080 |
10 |
104050642 |
missense variant |
T/A;C
|
snv
|
8.0E-06;
0.78
|
|
Primary biliary cirrhosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs9971100
|
1.000 |
0.080 |
10 |
104066661 |
intron variant |
A/C
|
snv
|
|
0.19
|
Primary biliary cirrhosis
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1064793760
|
1.000 |
0.080 |
10 |
104034179 |
frameshift variant |
T/-
|
del
|
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1210666598
|
1.000 |
0.080 |
10 |
104034272 |
frameshift variant |
CAGGGGGTC/C;G
|
delins
|
4.6E-06
|
|
Junctional Epidermolysis Bullosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|