COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Ehlers-Danlos syndrome cardiac valvular type ×
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: rs66612022
rs66612022 		0.763 0.240 7 94409768 missense variant G/A;T snv
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs67543427
rs67543427 		0.776 0.240 7 94410457 missense variant G/A;T snv
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs72659319
rs72659319 		0.763 0.240 7 94426459 missense variant G/A;C snv
CUI: C4303789
Disease: Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome cardiac valvular type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0