rs121909721
|
1.000 |
0.160 |
2 |
27313031 |
missense variant |
C/T
|
snv
|
1.2E-05
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.820 |
1.000 |
16 |
2006 |
2019 |
rs267607258
|
1.000 |
0.160 |
2 |
27312576 |
missense variant |
G/A;T
|
snv
|
5.6E-05
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
18 |
2006 |
2019 |
rs121909723
|
1.000 |
0.160 |
2 |
27313032 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
17 |
2006 |
2019 |
rs121909722
|
1.000 |
0.160 |
2 |
27309945 |
missense variant |
G/T
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2006 |
2019 |
rs267607256
|
1.000 |
0.160 |
2 |
27312697 |
missense variant |
T/C
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2006 |
2019 |
rs267607257
|
1.000 |
0.160 |
2 |
27312589 |
missense variant |
C/A;G;T
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2006 |
2019 |
rs267607259
|
1.000 |
0.160 |
2 |
27309958 |
stop gained |
G/T
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2006 |
2019 |
rs267607260
|
1.000 |
0.160 |
2 |
27309934 |
missense variant |
G/A
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2006 |
2019 |
rs886044113
|
1.000 |
0.160 |
2 |
27311899 |
missense variant |
C/A;G
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
16 |
2006 |
2019 |
rs375401970
|
1.000 |
0.160 |
2 |
27312768 |
missense variant |
G/C
|
snv
|
7.2E-05
|
7.7E-05
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2014 |
2014 |
rs121909725
|
1.000 |
0.160 |
2 |
27322448 |
missense variant |
C/A
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
2006 |
2019 |
rs762327729
|
1.000 |
0.160 |
2 |
27313073 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
16 |
2006 |
2019 |
rs1057524366
|
1.000 |
0.160 |
2 |
27312684 |
missense variant |
T/C;G
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs121909724
|
1.000 |
0.160 |
2 |
27312510 |
stop gained |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1553383467
|
1.000 |
0.160 |
2 |
27312572 |
stop gained |
A/T
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs267607261
|
0.807 |
0.280 |
2 |
27312753 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs863224072
|
1.000 |
0.160 |
2 |
27313059 |
missense variant |
G/A
|
snv
|
|
2.8E-05
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1064793178
|
1.000 |
0.160 |
2 |
27312494 |
splice region variant |
C/G;T
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs147952488
|
1.000 |
0.160 |
2 |
27312992 |
splice donor variant |
A/G
|
snv
|
2.8E-05
|
1.2E-04
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267607263
|
1.000 |
0.160 |
2 |
27312694 |
inframe deletion |
TTC/-
|
delins
|
1.6E-05
|
1.4E-05
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267607266
|
1.000 |
0.160 |
2 |
27322496 |
frameshift variant |
G/-;GG
|
delins
|
8.0E-06
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267607268
|
1.000 |
0.160 |
2 |
27322443 |
splice region variant |
C/T
|
snv
|
|
7.0E-06
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397507438
|
1.000 |
0.160 |
2 |
27313033 |
frameshift variant |
TGGTGTTCCTGCAGACCCCGCCTCTC/-
|
delins
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs749361266
|
1.000 |
0.160 |
2 |
27312213 |
splice donor variant |
C/T
|
snv
|
8.0E-06
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs754051090
|
1.000 |
0.160 |
2 |
27313074 |
stop gained |
G/A
|
snv
|
|
|
NAVAJO NEUROHEPATOPATHY
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|