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: 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: rs1554651544
rs1554651544 		1.000 0.160 9 35658035 upstream gene variant -/GAAGCTGAGTAGTA 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 3 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: rs1563908212
rs1563908212 		1.000 0.160 9 35658032 upstream gene variant -/ACAGAGTA 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 0
dbSNP: rs1554651524
rs1554651524 		1.000 0.160 9 35658031 upstream gene variant -/CACAGAGTAG 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 2 2005 2006
dbSNP: rs1554651526
rs1554651526 		1.000 0.160 9 35658031 upstream gene variant -/CACAGAGTAGTA 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 0
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: rs1554651507
rs1554651507 		0.925 0.200 9 35658030 upstream gene variant -/TCACAGAGTA 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 3 2001 2005
dbSNP: rs1554651512
rs1554651512 		1.000 0.160 9 35658030 upstream gene variant -/CACAGAGT 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 3 2001 2007
dbSNP: rs1554651513
rs1554651513 		1.000 0.160 9 35658030 upstream gene variant -/CACAGAGTAGT 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 3 2001 2007
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: 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: rs1554651503
rs1554651503 		1.000 0.160 9 35658029 upstream gene variant -/TCACAGAGT;TCACAGAGTTCACAGAGT;TTCACAGAGT 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 0
dbSNP: rs1554651505
rs1554651505 		1.000 0.160 9 35658029 upstream gene variant -/TTCACAGA 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 0
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: 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: rs1554651486
rs1554651486 		1.000 0.160 9 35658027 upstream gene variant -/GCTTCACAGAG;GCTTCACAGAGGCTTCACAGAG;GCTTCACAGAGGCTTCACAGAGGCTTCACAGAG 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 0
dbSNP: rs751921616
rs751921616 		0.925 0.200 9 35658026 upstream gene variant -/CTTCACAGAGTAG;CTTCACAGAGTAGCTTCACAGAGTAG delins 7.9E-06; 6.3E-05; 7.9E-06; 7.9E-06; 1.6E-05; 3.2E-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 2 2005 2017
dbSNP: rs1554651481
rs1554651481 		1.000 0.160 9 35658026 upstream gene variant -/AGCTTCACAGAG;CTTCACAGAG 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 0
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: rs1230629953
rs1230629953 		1.000 0.160 9 35658025 upstream gene variant -/CTTCACAG;CTTCACAGCTTCACAG;TCCCCAGCTTCACAG delins 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 0
dbSNP: rs1554651469
rs1554651469 		0.925 0.160 9 35658025 upstream gene variant -/CCCCAGCTTCACAGAGT 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 0
dbSNP: rs1554651471
rs1554651471 		1.000 0.160 9 35658025 upstream gene variant -/CCCCAGCTTCACAGAGTAGT 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 0
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