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: rs978962357
rs978962357 		11 57614553 missense variant T/C snv 4.0E-06
CUI: C0002994
Disease: Angioedema
Angioedema 		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: 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: rs2511989
rs2511989 		0.882 0.160 11 57610852 intron variant C/T snv 0.39
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.070 0.714 7 2008 2015
dbSNP: rs2511989
rs2511989 		0.882 0.160 11 57610852 intron variant C/T snv 0.39
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		0.030 < 0.001 3 2010 2015
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: rs2511989
rs2511989 		0.882 0.160 11 57610852 intron variant C/T snv 0.39
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2015 2015
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: 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: 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: rs11603020
rs11603020 		0.925 0.120 11 57606859 intron variant T/C snv 0.21
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs11603020
rs11603020 		0.925 0.120 11 57606859 intron variant T/C snv 0.21
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs28362941
rs28362941 		0.925 0.080 11 57597964 5 prime UTR variant G/C snv 1.2E-03
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs28362941
rs28362941 		0.925 0.080 11 57597964 5 prime UTR variant G/C snv 1.2E-03
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
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: 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: rs121907950
rs121907950 		0.925 0.120 11 57614472 missense variant C/T snv
CUI: C4016986
Disease: COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR 		0.700 0
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: 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