SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
Disease: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor ×
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: rs121907947
rs121907947 		0.925 0.160 11 57614450 missense variant G/A snv
CUI: C0398776
Disease: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121907948
rs121907948 		0.882 0.160 11 57614475 missense variant G/A;C;T snv
CUI: C0398776
Disease: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121907949
rs121907949 		0.925 0.160 11 57614439 missense variant T/A snv
CUI: C0398776
Disease: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs28940870
rs28940870 		0.882 0.160 11 57614474 missense variant C/A;T snv
CUI: C0398776
Disease: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs606231141
rs606231141 		1.000 0.160 11 57614435 protein altering variant -/TGT ins
CUI: C0398776
Disease: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0