Disease: Cartilage-hair hypoplasia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs551450545
rs551450545 		0.925 0.200 9 35657776 non coding transcript exon variant T/C;G snv 1.2E-04 9.8E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs727502776
rs727502776 		0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAGT;GCTTCACAGAGTAGTGCTTCACAGAGTAGT delins 2.7E-04
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 9 2001 2015
dbSNP: rs772443941
rs772443941 		1.000 0.160 9 35658014 non coding transcript exon variant G/A snv 1.1E-04 9.8E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651506
rs1554651506 		1.000 0.160 9 35658030 upstream gene variant -/TCACAGA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 8 2001 2008
dbSNP: rs1554651411
rs1554651411 		1.000 0.160 9 35658020 upstream gene variant -/CCTCAGCTTCACAGAGTAGT;GTCCTCAGCTTCACAGAGTAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 6 2001 2007
dbSNP: rs1554651153
rs1554651153 		1.000 0.160 9 35657836 non coding transcript exon variant C/A;G;T snv
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651499
rs1554651499 		1.000 0.160 9 35658029 upstream gene variant -/CACAGAGTAGTATT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 5 2001 2010
dbSNP: rs1554651543
rs1554651543 		0.925 0.200 9 35658035 upstream gene variant -/GAGTAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 5 2001 2010
dbSNP: rs727502778
rs727502778 		1.000 0.160 9 35658020 upstream gene variant -/CCTCAGCTTCACAGAGT delins 2.4E-04; 3.1E-05; 6.3E-05; 7.9E-06; 7.9E-06; 7.9E-06
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 5 2001 2007
dbSNP: rs752934195
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
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs753874439
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
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs781730798
rs781730798 		0.925 0.200 9 35658029 upstream gene variant -/TTCACAGAGTAGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs786204684
rs786204684 		0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651364
rs1554651364 		1.000 0.160 9 35658016 non coding transcript exon variant -/TCTCAGCTTCCACGT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651382
rs1554651382 		1.000 0.160 9 35658017 non coding transcript exon variant -/CACGTCCTCAGCTTCACAGA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651396
rs1554651396 		1.000 0.160 9 35658018 upstream gene variant -/CGTCCTCAGCTTCACAGA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651413
rs1554651413 		0.925 0.200 9 35658020 upstream gene variant -/GTCCTCAGCTTCACAGAGTAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651422
rs1554651422 		1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCAC delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651464
rs1554651464 		1.000 0.160 9 35658024 upstream gene variant -/TCAGCTTCACA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651466
rs1554651466 		1.000 0.160 9 35658024 upstream gene variant -/TCAGCTTCACAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651473
rs1554651473 		1.000 0.160 9 35658025 upstream gene variant -/CAGCTTCACAGAGTAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651489
rs1554651489 		0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAG delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651491
rs1554651491 		1.000 0.160 9 35658027 upstream gene variant -/GCTTCACAGAGTAGTAT delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs1554651532
rs1554651532 		1.000 0.160 9 35658032 upstream gene variant -/CAGAGTAGTA delins
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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
dbSNP: rs759665242
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
CUI: C0220748
Disease: Cartilage-hair hypoplasia
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