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: 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: rs920074067
rs920074067 		1.000 0.160 9 35658024 upstream gene variant -/CAGCTTCACAGAGTAGT;TCAGCTTCACAGAGTAGT 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 1 2011 2011
dbSNP: rs1554651461
rs1554651461 		1.000 0.160 9 35658024 upstream gene variant -/TTTCACAGAGTATCAG 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: rs1554651462
rs1554651462 		1.000 0.160 9 35658024 upstream gene variant -/TCAGCTT 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: rs1554651453
rs1554651453 		1.000 0.160 9 35658023 upstream gene variant -/CTCAGCTTCACAGAGTAG 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: rs727502777
rs727502777 		1.000 0.160 9 35658023 upstream gene variant -/CTCAGCTTCACAGAGTA 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 1 2011 2011
dbSNP: rs1554651446
rs1554651446 		1.000 0.160 9 35658023 upstream gene variant -/GCTCAG 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: rs1554651451
rs1554651451 		1.000 0.160 9 35658023 upstream gene variant -/CTCAGCTTCACAGAGT 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: rs1563907946
rs1563907946 		0.925 0.200 9 35658023 upstream gene variant -/TCAGCTTC 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: rs1554651428
rs1554651428 		1.000 0.160 9 35658022 upstream gene variant -/CCTCAGCTTCACAGAGTAG 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: 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: rs1563907883
rs1563907883 		1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCACAGAGTAGT 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 2008
dbSNP: rs1554651424
rs1554651424 		1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTT 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: rs1554651425
rs1554651425 		1.000 0.160 9 35658021 upstream gene variant -/CTCAGCTTC 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: rs1554651427
rs1554651427 		1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCACAGAGTA 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: rs1563907881
rs1563907881 		1.000 0.160 9 35658021 upstream gene variant -/TCCTCAGCTTCACAGAGT 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: 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: 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: 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: rs1554651405
rs1554651405 		1.000 0.160 9 35658020 upstream gene variant -/TCTCAGCTTCACAGAGT;TCTCAGCTTCACAGAGTAGT;TCTCAGCTTCACAGAGTGGT 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: rs1554651418
rs1554651418 		1.000 0.160 9 35658020 upstream gene variant -/GTCCTCAGCTTCACAGAG 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: rs1554651400
rs1554651400 		1.000 0.160 9 35658019 upstream gene variant -/CGTCCTCAGCTTC;GTCCTCAGCTTC 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 1 2002 2002
dbSNP: rs1554651403
rs1554651403 		1.000 0.160 9 35658019 upstream gene variant -/CGTCCTCAGCTTCACAGAGT 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: rs1554651404
rs1554651404 		0.925 0.200 9 35658019 upstream gene variant -/CGTCCTCAGCTTCACAGAG 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: 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