CCNH, cyclin H, 902

N. diseases: 83; N. variants: 37
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) ×
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: rs983011713
rs983011713 		1.000 0.120 5 87379851 splice donor variant G/A snv
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 3 2008 2013
dbSNP: rs1554050230
rs1554050230 		1.000 0.120 5 87383729 stop gained C/T snv
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 2 2013 2016
dbSNP: rs1561333645
rs1561333645 		1.000 0.120 5 87389510 stop gained G/T snv
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 2 2013 2018
dbSNP: rs1204340475
rs1204340475 		0.925 0.120 5 87376941 stop gained C/T snv 7.0E-06
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1554051094
rs1554051094 		1.000 0.120 5 87390845 frameshift variant CAAA/- delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1561316757
rs1561316757 		1.000 0.120 5 87369902 splice donor variant T/C snv
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1060503438
rs1060503438 		1.000 0.120 5 87385390 splice donor variant G/A snv
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1060503439
rs1060503439 		1.000 0.120 5 87362573 frameshift variant CA/- delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1060503440
rs1060503440 		1.000 0.120 5 87389522 stop gained C/T snv
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1060503441
rs1060503441 		1.000 0.120 5 87331417 frameshift variant CTTAT/- delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1347210621
rs1347210621 		1.000 0.120 5 87377028 frameshift variant -/T delins 7.0E-06
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554044823
rs1554044823 		0.882 0.120 5 87331464 stop gained C/G snv
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554045819
rs1554045819 		1.000 0.120 5 87341293 frameshift variant -/G delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554049825
rs1554049825 		1.000 0.120 5 87379801 frameshift variant -/T delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554050584
rs1554050584 		1.000 0.120 5 87386850 frameshift variant C/- delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1561331089
rs1561331089 		1.000 0.120 5 87386842 frameshift variant GT/- delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs201249348
rs201249348 		1.000 0.120 5 87374837 splice region variant T/C;G snv 3.0E-04 3.8E-04
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs747745016
rs747745016 		1.000 0.120 5 87369861 stop gained C/A;T snv 4.0E-06
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs878854569
rs878854569 		1.000 0.120 5 87379775 frameshift variant -/T delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs878854570
rs878854570 		1.000 0.120 5 87386886 frameshift variant -/TTTTA delins
CUI: C1842180
Disease: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 0