|
rs752941297
|
0.925 |
0.080 |
5 |
148097875 |
synonymous variant |
C/T
|
snv
|
2.0E-05
|
4.2E-05
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.720 |
1.000 |
3 |
2012 |
2015 |
|
rs121908387
|
1.000 |
0.080 |
5 |
148120063 |
stop gained |
C/T
|
snv
|
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2005 |
2005 |
|
rs1131691490
|
1.000 |
0.080 |
5 |
148065374 |
splice donor variant |
T/A
|
snv
|
8.0E-06
|
2.1E-05
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2001 |
2002 |
|
rs1561701382
|
1.000 |
0.080 |
5 |
148120137 |
splice donor variant |
G/A
|
snv
|
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2001 |
2002 |
|
rs199757347
|
1.000 |
0.080 |
5 |
148091214 |
stop gained |
C/G;T
|
snv
|
3.2E-05;
4.0E-05
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2001 |
2016 |
|
rs2052536
|
|
|
5 |
148124994 |
intron variant |
T/C;G
|
snv
|
|
|
Blood Protein Measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
|
rs1554104853
|
1.000 |
0.080 |
5 |
148104957 |
frameshift variant |
A/-
|
delins
|
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1561680487
|
1.000 |
0.080 |
5 |
148086473 |
frameshift variant |
TTGT/-
|
delins
|
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1561684604
|
1.000 |
0.080 |
5 |
148094373 |
frameshift variant |
A/-
|
delins
|
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1561686960
|
1.000 |
0.080 |
5 |
148097979 |
frameshift variant |
T/-
|
del
|
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1561695740
|
1.000 |
0.080 |
5 |
148111891 |
splice donor variant |
TTCTTGTGAGTGGGCGGCAGCCACTG/CT
|
delins
|
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs368134354
|
0.925 |
0.080 |
5 |
148104940 |
intron variant |
G/A;C;T
|
snv
|
3.3E-05;
4.1E-06;
8.3E-06
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs368134354
|
0.925 |
0.080 |
5 |
148104940 |
intron variant |
G/A;C;T
|
snv
|
3.3E-05;
4.1E-06;
8.3E-06
|
|
Exfoliative dermatitis
|
Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs368134354
|
0.925 |
0.080 |
5 |
148104940 |
intron variant |
G/A;C;T
|
snv
|
3.3E-05;
4.1E-06;
8.3E-06
|
|
Increased IgE level
|
|
0.700 |
|
0 |
|
|
|
rs565782662
|
1.000 |
0.080 |
5 |
148120312 |
frameshift variant |
AAA/-;A;AA;AAAA
|
delins
|
|
7.3E-06
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs587777749
|
1.000 |
0.080 |
5 |
148086403 |
splice acceptor variant |
A/T
|
snv
|
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs752941297
|
0.925 |
0.080 |
5 |
148097875 |
synonymous variant |
C/T
|
snv
|
2.0E-05
|
4.2E-05
|
Increased IgE level
|
|
0.700 |
|
0 |
|
|
|
rs752941297
|
0.925 |
0.080 |
5 |
148097875 |
synonymous variant |
C/T
|
snv
|
2.0E-05
|
4.2E-05
|
Exfoliative dermatitis
|
Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs753621591
|
1.000 |
0.080 |
5 |
148123851 |
stop gained |
C/T
|
snv
|
1.2E-05
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs761490126
|
1.000 |
0.080 |
5 |
148095838 |
frameshift variant |
AA/-
|
delins
|
4.0E-06
|
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs766978225
|
1.000 |
0.080 |
5 |
148131312 |
stop gained |
T/A
|
snv
|
4.0E-06
|
2.1E-05
|
Ichthyosis linearis circumflexa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs2303067
|
0.851 |
0.160 |
5 |
148101392 |
missense variant |
A/G
|
snv
|
0.52
|
0.44
|
Eczema
|
Skin and Connective Tissue Diseases
|
0.070 |
1.000 |
7 |
2004 |
2012 |
|
rs2303067
|
0.851 |
0.160 |
5 |
148101392 |
missense variant |
A/G
|
snv
|
0.52
|
0.44
|
Dermatitis, Atopic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
0.060 |
1.000 |
6 |
2004 |
2012 |
|
rs2303067
|
0.851 |
0.160 |
5 |
148101392 |
missense variant |
A/G
|
snv
|
0.52
|
0.44
|
Asthma
|
Respiratory Tract Diseases; Immune System Diseases
|
0.030 |
1.000 |
3 |
2004 |
2005 |
|
rs2303063
|
0.882 |
0.160 |
5 |
148100464 |
missense variant |
G/A
|
snv
|
0.52
|
0.44
|
Eczema
|
Skin and Connective Tissue Diseases
|
0.020 |
1.000 |
2 |
2005 |
2012 |