rs121908096
|
0.827 |
0.320 |
2 |
218814186 |
missense variant |
C/A;T
|
snv
|
8.0E-06;
2.9E-04
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.830 |
1.000 |
19 |
1991 |
2016 |
rs121908098
|
1.000 |
0.080 |
2 |
218814701 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
13 |
1991 |
2012 |
rs72551322
|
1.000 |
0.080 |
2 |
218814716 |
missense variant |
C/A;G;T
|
snv
|
1.6E-05;
1.2E-05;
4.4E-05
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
11 |
1991 |
2016 |
rs121908097
|
1.000 |
0.080 |
2 |
218814702 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.8E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.810 |
1.000 |
6 |
1991 |
2002 |
rs121908099
|
1.000 |
0.080 |
2 |
218814409 |
missense variant |
G/A
|
snv
|
4.0E-05
|
7.0E-06
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
14 |
1991 |
2018 |
rs72551313
|
1.000 |
0.080 |
2 |
218809755 |
missense variant |
G/A
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.800 |
1.000 |
5 |
1991 |
2002 |
rs121908102
|
1.000 |
0.080 |
2 |
218813095 |
missense variant |
C/T
|
snv
|
8.1E-05;
4.0E-06
|
1.1E-04
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
9 |
1994 |
2016 |
rs201114717
|
1.000 |
0.080 |
2 |
218809700 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
6.8E-05
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
9 |
1996 |
2017 |
rs376230356
|
1.000 |
0.080 |
2 |
218809701 |
missense variant |
G/A
|
snv
|
1.6E-05
|
2.8E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
9 |
1996 |
2017 |
rs397515355
|
1.000 |
0.080 |
2 |
218814459 |
splice donor variant |
G/A;T
|
snv
|
2.8E-05
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
7 |
1996 |
2017 |
rs573951598
|
0.882 |
0.200 |
2 |
218814408 |
missense variant |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
6 |
2000 |
2012 |
rs587778818
|
1.000 |
0.080 |
2 |
218809731 |
missense variant |
G/A
|
snv
|
3.6E-05
|
4.2E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
1994 |
2018 |
rs587778777
|
1.000 |
0.080 |
2 |
218814188 |
splice donor variant |
G/A
|
snv
|
1.6E-04
|
9.8E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1997 |
2016 |
rs72551317
|
1.000 |
0.080 |
2 |
218812681 |
missense variant |
A/G
|
snv
|
1.6E-05
|
7.0E-06
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
2000 |
2013 |
rs765512351
|
1.000 |
0.080 |
2 |
218812300 |
frameshift variant |
G/-
|
delins
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1996 |
2015 |
rs1559391480
|
1.000 |
0.080 |
2 |
218809719 |
stop gained |
G/A
|
snv
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2001 |
2011 |
rs397515353
|
1.000 |
0.080 |
2 |
218812923 |
splice acceptor variant |
G/A
|
snv
|
6.4E-05
|
4.2E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1993 |
2016 |
rs397515354
|
1.000 |
0.080 |
2 |
218812750 |
splice donor variant |
G/A;C;T
|
snv
|
8.0E-06;
4.0E-06
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2017 |
rs587778797
|
1.000 |
0.080 |
2 |
218809768 |
splice donor variant |
G/A;T
|
snv
|
4.0E-06
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2015 |
rs72551312
|
1.000 |
0.080 |
2 |
218809730 |
missense variant |
C/A;T
|
snv
|
4.4E-05
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2010 |
2018 |
rs587778796
|
1.000 |
0.080 |
2 |
218809756 |
synonymous variant |
G/A;T
|
snv
|
4.0E-06;
2.4E-05
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
1998 |
2018 |
rs72551318
|
1.000 |
0.080 |
2 |
218812713 |
stop gained |
C/G;T
|
snv
|
1.2E-05;
2.0E-05
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs1178393503
|
1.000 |
0.080 |
2 |
218814181 |
frameshift variant |
CT/-
|
delins
|
|
1.4E-05
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs374507635
|
1.000 |
0.080 |
2 |
218815007 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs397515356
|
1.000 |
0.080 |
2 |
218813022 |
frameshift variant |
TGGCC/-
|
delins
|
|
|
Xanthomatosis, Cerebrotendinous
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |