SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
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: rs121907948
rs121907948 		0.882 0.160 11 57614475 missense variant G/A;C;T snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.800 1.000 17 1988 2018
dbSNP: rs281875170
rs281875170 		1.000 0.120 11 57600377 missense variant G/A snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.800 1.000 17 1988 2018
dbSNP: rs28940870
rs28940870 		0.882 0.160 11 57614474 missense variant C/A;T snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.800 1.000 17 1988 2018
dbSNP: rs121907947
rs121907947 		0.925 0.160 11 57614450 missense variant G/A snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs121907949
rs121907949 		0.925 0.160 11 57614439 missense variant T/A snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs121907950
rs121907950 		0.925 0.120 11 57614472 missense variant C/T snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875168
rs281875168 		1.000 0.120 11 57600288 missense variant A/G snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875169
rs281875169 		1.000 0.120 11 57600336 missense variant C/T snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875171
rs281875171 		1.000 0.120 11 57606013 missense variant T/C snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875172
rs281875172 		1.000 0.120 11 57606019 missense variant T/A snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875173
rs281875173 		1.000 0.120 11 57606413 missense variant T/C snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875174
rs281875174 		1.000 0.120 11 57614367 missense variant T/A snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875175
rs281875175 		1.000 0.120 11 57614400 missense variant T/C snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875176
rs281875176 		1.000 0.120 11 57614418 missense variant T/C snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875177
rs281875177 		1.000 0.120 11 57614496 missense variant T/G snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs281875178
rs281875178 		1.000 0.120 11 57614568 missense variant A/G snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 16 1988 2014
dbSNP: rs28940870
rs28940870 		0.882 0.160 11 57614474 missense variant C/A;T snv
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.030 1.000 3 1990 2015
dbSNP: rs121907948
rs121907948 		0.882 0.160 11 57614475 missense variant G/A;C;T snv
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.020 1.000 2 1992 2002
dbSNP: rs1057520366
rs1057520366 		1.000 0.120 11 57606195 missense variant A/C snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1326562515
rs1326562515 		1.000 0.120 11 57606105 missense variant C/T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1554995860
rs1554995860 		1.000 0.120 11 57606471 stop gained C/G snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554996833
rs1554996833 		1.000 0.120 11 57614428 frameshift variant GA/- delins
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565168898
rs1565168898 		1.000 0.120 11 57598271 start lost A/C;G snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565170287
rs1565170287 		1.000 0.120 11 57602069 frameshift variant ATCC/- delins
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1565170364
rs1565170364 		1.000 0.120 11 57602158 stop gained TC/AA mnv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018