rs2853578
|
1.000 |
0.120 |
9 |
104831027 |
missense variant |
T/A;C
|
snv
|
4.0E-06
|
7.0E-06
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
1 |
2008 |
2008 |
rs137854494
|
1.000 |
0.120 |
9 |
104806276 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1999 |
2013 |
rs137854495
|
1.000 |
0.120 |
9 |
104822514 |
missense variant |
G/A
|
snv
|
1.2E-05
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1999 |
2013 |
rs137854497
|
1.000 |
0.120 |
9 |
104804668 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1999 |
2013 |
rs137854500
|
1.000 |
0.120 |
9 |
104814154 |
missense variant |
C/T
|
snv
|
2.4E-05
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1999 |
2013 |
rs137854501
|
1.000 |
0.120 |
9 |
104786940 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1999 |
2013 |
rs28937313
|
0.882 |
0.160 |
9 |
104822520 |
missense variant |
T/C
|
snv
|
8.0E-06
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1999 |
2013 |
rs28937314
|
1.000 |
0.120 |
9 |
104822521 |
missense variant |
T/C;G
|
snv
|
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1999 |
2013 |
rs137854496
|
1.000 |
0.120 |
9 |
104831048 |
missense variant |
C/A;G
|
snv
|
5.6E-05;
4.0E-05
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.720 |
1.000 |
22 |
1999 |
2013 |
rs137854498
|
1.000 |
0.120 |
9 |
104798504 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
8.0E-06
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
20 |
1999 |
2013 |
rs141021096
|
1.000 |
0.120 |
9 |
104819690 |
missense variant |
G/T
|
snv
|
8.0E-06
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2004 |
2004 |
rs146292819
|
0.790 |
0.240 |
9 |
104794495 |
missense variant |
T/G
|
snv
|
2.9E-04
|
3.8E-04
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1999 |
2013 |
rs1055285452
|
1.000 |
0.120 |
9 |
104793255 |
missense variant |
C/T
|
snv
|
8.0E-06
|
1.4E-05
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1322998567
|
1.000 |
0.120 |
9 |
104825707 |
missense variant |
A/G
|
snv
|
4.0E-06
|
7.0E-06
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137854502
|
1.000 |
0.120 |
9 |
104831098 |
stop gained |
G/T
|
snv
|
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554714092
|
1.000 |
0.120 |
9 |
104822599 |
frameshift variant |
G/-
|
delins
|
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs2853574
|
1.000 |
0.120 |
9 |
104831058 |
missense variant |
G/A
|
snv
|
2.4E-05
|
4.3E-05
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906413
|
1.000 |
0.120 |
9 |
104830993 |
frameshift variant |
C/-
|
del
|
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906414
|
1.000 |
0.120 |
9 |
104818781 |
frameshift variant |
AG/-
|
delins
|
|
7.0E-06
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs564764153
|
1.000 |
0.120 |
9 |
104785453 |
missense variant |
C/G
|
snv
|
1.5E-04
|
1.8E-04
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs745593394
|
1.000 |
0.120 |
9 |
104819625 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs758100110
|
0.925 |
0.120 |
9 |
104845527 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796051872
|
1.000 |
0.120 |
9 |
104816142 |
splice donor variant |
C/G
|
snv
|
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796051873
|
1.000 |
0.120 |
9 |
104831740 |
stop gained |
AGAACTTCCTCTCA/GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATT;GTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG
|
delins
|
|
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs374404992
|
1.000 |
0.120 |
9 |
104840489 |
stop gained |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Tangier Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2003 |
2010 |