rs314253
|
|
|
17 |
7188331 |
downstream gene variant |
T/C
|
snv
|
|
0.37
|
Alkaline phosphatase measurement
|
|
0.800 |
1.000 |
1 |
2011 |
2011 |
rs2242449
|
1.000 |
0.080 |
17 |
7192188 |
non coding transcript exon variant |
C/A;G;T
|
snv
|
|
|
Body mass index
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs571720664
|
|
|
17 |
7203556 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Feeling despair
|
Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs314253
|
|
|
17 |
7188331 |
downstream gene variant |
T/C
|
snv
|
|
0.37
|
Low density lipoprotein cholesterol measurement
|
|
0.800 |
1.000 |
3 |
2013 |
2018 |
rs571720664
|
|
|
17 |
7203556 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Mood Disorders
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs2242449
|
1.000 |
0.080 |
17 |
7192188 |
non coding transcript exon variant |
C/A;G;T
|
snv
|
|
|
Nicotine Dependence
|
Chemically-Induced Disorders; Mental Disorders
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs507506
|
1.000 |
0.080 |
17 |
7215003 |
intron variant |
A/G
|
snv
|
|
0.55
|
Nicotine Dependence
|
Chemically-Induced Disorders; Mental Disorders
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs1555528304
|
0.925 |
0.240 |
17 |
7222037 |
frameshift variant |
CT/-
|
del
|
|
|
Pearson's marrow-pancreas syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs13331
|
1.000 |
0.040 |
17 |
7190147 |
3 prime UTR variant |
A/G
|
snv
|
|
0.72
|
Schizophrenia
|
Mental Disorders
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs408315
|
|
|
17 |
7203156 |
intron variant |
A/G
|
snv
|
5.2E-02
|
0.15
|
Serum albumin measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs41283399
|
|
|
17 |
7218220 |
intron variant |
C/A;T
|
snv
|
2.5E-02
|
|
Serum albumin measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs41283401
|
|
|
17 |
7219021 |
5 prime UTR variant |
G/A
|
snv
|
|
2.4E-02
|
Serum albumin measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs41283403
|
|
|
17 |
7219509 |
5 prime UTR variant |
C/T
|
snv
|
|
3.0E-02
|
Serum albumin measurement
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs314253
|
|
|
17 |
7188331 |
downstream gene variant |
T/C
|
snv
|
|
0.37
|
Serum LDL cholesterol measurement
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs314253
|
|
|
17 |
7188331 |
downstream gene variant |
T/C
|
snv
|
|
0.37
|
Serum total cholesterol measurement
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs893595382
|
|
|
17 |
7196908 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Tauopathies
|
Nervous System Diseases
|
0.020 |
1.000 |
2 |
2015 |
2018 |
rs369560930
|
1.000 |
0.200 |
17 |
7221580 |
missense variant |
G/A;T
|
snv
|
4.4E-05;
4.0E-06
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
9 |
1996 |
2016 |
rs545215807
|
1.000 |
0.200 |
17 |
7221613 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
4.0E-06
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
7 |
1996 |
2012 |
rs140629318
|
1.000 |
0.200 |
17 |
7221966 |
missense variant |
G/A;C
|
snv
|
2.0E-05;
1.2E-05
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
5 |
1996 |
2014 |
rs398123091
|
1.000 |
0.200 |
17 |
7221993 |
missense variant |
G/A;C
|
snv
|
1.2E-05;
4.0E-06
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
2006 |
2014 |
rs786204536
|
1.000 |
0.200 |
17 |
7222014 |
stop gained |
C/T
|
snv
|
4.0E-06
|
1.4E-05
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1999 |
2018 |
rs1432183079
|
1.000 |
0.200 |
17 |
7221981 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
1996 |
1999 |
rs1555527745
|
1.000 |
0.200 |
17 |
7220678 |
splice donor variant |
T/G
|
snv
|
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2012 |
rs387906249
|
1.000 |
0.200 |
17 |
7220923 |
splice acceptor variant |
G/-
|
delins
|
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
1995 |
2016 |
rs1057516714
|
1.000 |
0.200 |
17 |
7221970 |
frameshift variant |
GTCT/-
|
delins
|
|
|
Very long chain acyl-CoA dehydrogenase deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
1999 |
1999 |