rs1064651
|
0.732 |
0.360 |
1 |
155235727 |
missense variant |
C/G
|
snv
|
1.3E-04
|
2.0E-04
|
Heart valve disease
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs2230288
|
0.776 |
0.160 |
1 |
155236376 |
missense variant |
C/T
|
snv
|
1.0E-02
|
1.0E-02
|
Hypertensive disease
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1289324472
|
0.716 |
0.400 |
1 |
155236354 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
Congenital absence of spleen
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
Congenital absence of spleen
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs421016
|
0.683 |
0.440 |
1 |
155235252 |
missense variant |
A/C;G
|
snv
|
8.0E-06;
1.3E-03
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs77369218
|
0.807 |
0.160 |
1 |
155235726 |
missense variant |
T/A
|
snv
|
|
|
Lafora Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1289324472
|
0.716 |
0.400 |
1 |
155236354 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
Lysosomal Storage Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1289324472
|
0.716 |
0.400 |
1 |
155236354 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
Hypoalphalipoproteinemias
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
Lysosomal Storage Diseases
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
Hypoalphalipoproteinemias
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs2230288
|
0.776 |
0.160 |
1 |
155236376 |
missense variant |
C/T
|
snv
|
1.0E-02
|
1.0E-02
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
31 |
1990 |
2014 |
rs421016
|
0.683 |
0.440 |
1 |
155235252 |
missense variant |
A/C;G
|
snv
|
8.0E-06;
1.3E-03
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
29 |
1991 |
2019 |
rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
0.966 |
29 |
1994 |
2019 |
rs77834747
|
1.000 |
0.120 |
1 |
155238632 |
missense variant |
A/C;G
|
snv
|
|
7.0E-06
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
29 |
1990 |
2014 |
rs80356771
|
0.776 |
0.160 |
1 |
155235196 |
missense variant |
G/A;T
|
snv
|
7.2E-05;
4.0E-06
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
29 |
1990 |
2014 |
rs1289324472
|
0.716 |
0.400 |
1 |
155236354 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
Gaucher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.100 |
0.962 |
26 |
1998 |
2019 |
rs80356769
|
0.776 |
0.160 |
1 |
155235772 |
missense variant |
C/A
|
snv
|
3.2E-05
|
7.0E-06
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
26 |
1989 |
2011 |
rs121908314
|
1.000 |
0.120 |
1 |
155235841 |
missense variant |
G/C
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
23 |
1990 |
2009 |
rs76763715
|
0.658 |
0.520 |
1 |
155235843 |
missense variant |
T/C;G
|
snv
|
2.3E-03
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.850 |
1.000 |
23 |
1988 |
2018 |
rs121908297
|
1.000 |
0.120 |
1 |
155238519 |
missense variant |
T/G
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908298
|
1.000 |
0.120 |
1 |
155237357 |
missense variant |
G/A
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908299
|
1.000 |
0.120 |
1 |
155238624 |
missense variant |
G/A
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908300
|
1.000 |
0.120 |
1 |
155238144 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908301
|
1.000 |
0.120 |
1 |
155235057 |
missense variant |
C/T
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |
rs121908302
|
1.000 |
0.120 |
1 |
155240033 |
missense variant |
C/A
|
snv
|
|
|
Gaucher Disease, Type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
22 |
1990 |
2009 |