Disease: Anauxetic dysplasia ×
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: rs199476103
rs199476103 		0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 8 1994 2007
dbSNP: rs1554651489
rs1554651489 		0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAG delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 6 2001 2017
dbSNP: rs1554651508
rs1554651508 		1.000 0.120 9 35658030 upstream gene variant -/CACAGAGTAGTAT;CACAGAGTAGTATCACAGAGTAGTAT delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 6 2001 2014
dbSNP: rs948931144
rs948931144 		0.925 0.200 9 35657823 non coding transcript exon variant G/A;C;T snv 6.9E-05; 7.7E-06
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 6 2001 2007
dbSNP: rs1554651404
rs1554651404 		0.925 0.200 9 35658019 upstream gene variant -/CGTCCTCAGCTTCACAGAG delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 2001 2011
dbSNP: rs1554651413
rs1554651413 		0.925 0.200 9 35658020 upstream gene variant -/GTCCTCAGCTTCACAGAGTAGTA delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 2001 2011
dbSNP: rs1563907686
rs1563907686 		1.000 0.120 9 35658015 non coding transcript exon variant -/ACCACGTCCTCAGCTTCACAGAGTAGTATTTTATAG delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 2001 2011
dbSNP: rs1563907946
rs1563907946 		0.925 0.200 9 35658023 upstream gene variant -/TCAGCTTC delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 5 2001 2005
dbSNP: rs727502776
rs727502776 		0.925 0.200 9 35658027 upstream gene variant -/GCTTCACAGAGTAGT;GCTTCACAGAGTAGTGCTTCACAGAGTAGT delins 2.7E-04
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 4 2001 2015
dbSNP: rs786204684
rs786204684 		0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 4 2002 2007
dbSNP: rs936059863
rs936059863 		0.925 0.200 9 35657800 non coding transcript exon variant T/C;G snv 1.5E-05; 7.7E-06
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 4 2003 2007
dbSNP: rs1554651543
rs1554651543 		0.925 0.200 9 35658035 upstream gene variant -/GAGTAGT delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 3 2001 2010
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: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 3 2002 2015
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: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 3 2002 2007
dbSNP: rs1554651507
rs1554651507 		0.925 0.200 9 35658030 upstream gene variant -/TCACAGAGTA delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 2 2001 2005
dbSNP: rs781730798
rs781730798 		0.925 0.200 9 35658029 upstream gene variant -/TTCACAGAGTAGT delins
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 2 2001 2005
dbSNP: rs1340624774
rs1340624774 		1.000 0.120 9 35657920 non coding transcript exon variant -/AC delins 1.5E-05
CUI: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine 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: C1846796
Disease: Anauxetic dysplasia
Anauxetic dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0