rs1800562
|
0.435 |
0.880 |
6 |
26092913 |
missense variant |
G/A
|
snv
|
3.3E-02
|
3.8E-02
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.900 |
0.976 |
248 |
1996 |
2019 |
rs111033563
|
0.776 |
0.240 |
6 |
26092916 |
missense variant |
A/C
|
snv
|
4.0E-06
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
18 |
1996 |
2008 |
rs28934597
|
0.925 |
0.080 |
6 |
26091041 |
missense variant |
G/C
|
snv
|
1.2E-05
|
7.0E-06
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
18 |
1996 |
2008 |
rs1799945
|
0.452 |
0.760 |
6 |
26090951 |
missense variant |
C/G;T
|
snv
|
0.11
|
0.10
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
0.960 |
99 |
1996 |
2019 |
rs111033558
|
1.000 |
0.080 |
6 |
26093215 |
missense variant |
G/C;T
|
snv
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
18 |
1996 |
2008 |
rs28934595
|
0.925 |
0.160 |
6 |
26091354 |
missense variant |
A/C
|
snv
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
18 |
1996 |
2008 |
rs28934596
|
1.000 |
0.080 |
6 |
26091078 |
missense variant |
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
18 |
1996 |
2008 |
rs1800730
|
0.649 |
0.480 |
6 |
26090957 |
missense variant |
A/T
|
snv
|
1.0E-02
|
1.0E-02
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.760 |
0.857 |
7 |
1999 |
2012 |
rs146519482
|
0.925 |
0.080 |
6 |
26091475 |
stop gained |
G/C;T
|
snv
|
4.5E-04
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.710 |
1.000 |
2 |
2000 |
2002 |
rs143175221
|
0.827 |
0.200 |
6 |
26092952 |
missense variant |
T/C
|
snv
|
8.4E-04
|
5.6E-04
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
18 |
1996 |
2008 |
rs149342416
|
1.000 |
0.080 |
6 |
26087458 |
missense variant |
G/C
|
snv
|
6.9E-04
|
7.0E-04
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
18 |
1996 |
2008 |
rs797045145
|
0.807 |
0.240 |
6 |
26091479 |
stop gained |
G/A
|
snv
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1561939338
|
1.000 |
0.080 |
6 |
26090839 |
splice acceptor variant |
AGGT/TGGAGTC
|
delins
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs747739169
|
1.000 |
0.080 |
6 |
26090960 |
missense variant |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs35201683
|
0.732 |
0.360 |
6 |
26094205 |
stop gained |
C/A;T
|
snv
|
1.4E-03
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.030 |
1.000 |
3 |
2001 |
2003 |
rs780246573
|
0.732 |
0.360 |
6 |
26092860 |
stop gained |
C/G;T
|
snv
|
4.0E-06;
8.0E-06
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.030 |
1.000 |
3 |
2001 |
2003 |
rs1167115018
|
0.827 |
0.160 |
6 |
26092760 |
missense variant |
A/G
|
snv
|
8.0E-06
|
7.0E-06
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs199916850
|
0.925 |
0.080 |
6 |
26091521 |
missense variant |
T/C
|
snv
|
8.0E-06
|
1.4E-05
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs2858996
|
0.925 |
0.080 |
6 |
26093798 |
intron variant |
G/A;C;T
|
snv
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
< 0.001 |
1 |
2011 |
2011 |
rs537002912
|
0.925 |
0.080 |
6 |
26093145 |
missense variant |
A/G
|
snv
|
8.0E-06
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs707889
|
0.827 |
0.200 |
6 |
26095703 |
3 prime UTR variant |
G/A;T
|
snv
|
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
< 0.001 |
1 |
2011 |
2011 |
rs748882267
|
0.925 |
0.080 |
6 |
26093156 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs781516027
|
0.882 |
0.080 |
6 |
26092744 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
3.6E-05
|
|
HEMOCHROMATOSIS, TYPE 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |