rs1800562
|
0.435 |
0.880 |
6 |
26092913 |
missense variant |
G/A
|
snv
|
3.3E-02
|
3.8E-02
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
0.973 |
260 |
1997 |
2019 |
rs1799945
|
0.452 |
0.760 |
6 |
26090951 |
missense variant |
C/G;T
|
snv
|
0.11
|
0.10
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
0.991 |
114 |
1996 |
2019 |
rs1554154042
|
1.000 |
0.080 |
6 |
26092828 |
frameshift variant |
A/-
|
delins
|
|
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs749553271
|
1.000 |
0.080 |
6 |
26092960 |
stop gained |
G/T
|
snv
|
|
2.1E-05
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs765804978
|
1.000 |
0.080 |
6 |
26091519 |
frameshift variant |
CC/-
|
del
|
|
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1800730
|
0.649 |
0.480 |
6 |
26090957 |
missense variant |
A/T
|
snv
|
1.0E-02
|
1.0E-02
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.100 |
0.947 |
19 |
1999 |
2019 |
rs143175221
|
0.827 |
0.200 |
6 |
26092952 |
missense variant |
T/C
|
snv
|
8.4E-04
|
5.6E-04
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.020 |
1.000 |
2 |
2002 |
2012 |
rs111033563
|
0.776 |
0.240 |
6 |
26092916 |
missense variant |
A/C
|
snv
|
4.0E-06
|
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs1167115018
|
0.827 |
0.160 |
6 |
26092760 |
missense variant |
A/G
|
snv
|
8.0E-06
|
7.0E-06
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs140080192
|
1.000 |
0.080 |
6 |
26092897 |
missense variant |
G/A;C
|
snv
|
3.6E-03
|
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs202068193
|
1.000 |
0.080 |
6 |
26092834 |
missense variant |
G/A
|
snv
|
5.6E-05
|
1.4E-05
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
< 0.001 |
1 |
2010 |
2010 |
rs35201683
|
0.732 |
0.360 |
6 |
26094205 |
stop gained |
C/A;T
|
snv
|
1.4E-03
|
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs765545512
|
0.827 |
0.240 |
6 |
26093226 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
1.6E-05
|
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs773624350
|
1.000 |
0.080 |
6 |
26092887 |
synonymous variant |
C/T
|
snv
|
4.0E-06
|
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs777018511
|
0.925 |
0.080 |
6 |
26091451 |
frameshift variant |
C/-
|
delins
|
1.2E-05
|
7.0E-06
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs780246573
|
0.732 |
0.360 |
6 |
26092860 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Hereditary hemochromatosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |