rs727502774
|
1.000 |
0.160 |
9 |
35657756 |
non coding transcript exon variant |
C/A;G;T
|
snv
|
8.1E-06;
1.6E-05
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs551450545
|
0.925 |
0.200 |
9 |
35657776 |
non coding transcript exon variant |
T/C;G
|
snv
|
1.2E-04
|
9.8E-05
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
9 |
2002 |
2016 |
rs936059863
|
0.925 |
0.200 |
9 |
35657800 |
non coding transcript exon variant |
T/C;G
|
snv
|
1.5E-05;
7.7E-06
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
2 |
2003 |
2007 |
rs192060920
|
1.000 |
0.160 |
9 |
35657807 |
non coding transcript exon variant |
G/A;C
|
snv
|
6.2E-05;
7.8E-06
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
2 |
2002 |
2006 |
rs948931144
|
0.925 |
0.200 |
9 |
35657823 |
non coding transcript exon variant |
G/A;C;T
|
snv
|
6.9E-05;
7.7E-06
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2002 |
2007 |
rs1554651153
|
1.000 |
0.160 |
9 |
35657836 |
non coding transcript exon variant |
C/A;G;T
|
snv
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
5 |
2005 |
2015 |
rs753874439
|
0.925 |
0.200 |
9 |
35657872 |
non coding transcript exon variant |
C/A;G;T
|
snv
|
7.7E-06;
3.1E-05;
4.6E-05
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
5 |
2002 |
2010 |
rs199476103
|
0.851 |
0.200 |
9 |
35657948 |
non coding transcript exon variant |
T/C
|
snv
|
8.7E-04;
2.3E-05
|
1.5E-03
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2002 |
2007 |
rs786204684
|
0.851 |
0.200 |
9 |
35657955 |
non coding transcript exon variant |
G/A
|
snv
|
3.1E-05
|
4.2E-05
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
5 |
2002 |
2007 |
rs1156413585
|
1.000 |
0.160 |
9 |
35657978 |
non coding transcript exon variant |
C/T
|
snv
|
7.7E-06
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2005 |
2010 |
rs772443941
|
1.000 |
0.160 |
9 |
35658014 |
non coding transcript exon variant |
G/A
|
snv
|
1.1E-04
|
9.8E-05
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
9 |
2002 |
2015 |
rs759665242
|
1.000 |
0.160 |
9 |
35658015 |
non coding transcript exon variant |
-/CACCACGTCC
|
delins
|
1.6E-05;
1.6E-05;
7.8E-06
|
1.4E-05
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2001 |
2007 |
rs878853178
|
1.000 |
0.160 |
9 |
35658015 |
non coding transcript exon variant |
-/CACGTCCTCAGCTTCAC
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1554651364
|
1.000 |
0.160 |
9 |
35658016 |
non coding transcript exon variant |
-/TCTCAGCTTCCACGT
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2001 |
2007 |
rs1554651365
|
1.000 |
0.160 |
9 |
35658016 |
non coding transcript exon variant |
-/CACGTCCTC
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs752934195
|
1.000 |
0.160 |
9 |
35658017 |
non coding transcript exon variant |
-/CGTCCTCA
|
delins
|
1.7E-04;
7.8E-06;
2.3E-05;
3.1E-05;
3.1E-05;
4.7E-05
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
5 |
2001 |
2008 |
rs1554651382
|
1.000 |
0.160 |
9 |
35658017 |
non coding transcript exon variant |
-/CACGTCCTCAGCTTCACAGA
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2001 |
2007 |
rs1554651373
|
1.000 |
0.160 |
9 |
35658017 |
non coding transcript exon variant |
-/GTCCTCAGCTTCAC
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs1554651368
|
1.000 |
0.160 |
9 |
35658017 |
non coding transcript exon variant |
-/TCTCAGCTCACGT;TCTCAGCTTCACAGACACGT;TCTCAGCTTCACAGAGCACGT
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1554651396
|
1.000 |
0.160 |
9 |
35658018 |
upstream gene variant |
-/CGTCCTCAGCTTCACAGA
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2001 |
2007 |
rs1554651393
|
1.000 |
0.160 |
9 |
35658018 |
upstream gene variant |
-/ACGTCCTCAG
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2007 |
rs1554651395
|
1.000 |
0.160 |
9 |
35658018 |
upstream gene variant |
-/AACGTCCTCAGCTTCA
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
3 |
2001 |
2007 |
rs1218494857
|
1.000 |
0.160 |
9 |
35658018 |
upstream gene variant |
-/TCTCAGCTTCACAGAGACGT;TCTCAGCTTCACAGAGTACGT;TCTCAGCTTTACGT
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1554651397
|
1.000 |
0.160 |
9 |
35658018 |
upstream gene variant |
-/TACGTCCTCAGCTTCACAGAGT
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs1554651400
|
1.000 |
0.160 |
9 |
35658019 |
upstream gene variant |
-/CGTCCTCAGCTTC;GTCCTCAGCTTC
|
delins
|
|
|
Cartilage-hair hypoplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |