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: rs112565881
rs112565881 		1.000 0.120 11 57611937 splice donor variant G/A;T snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
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: 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: rs121907951
rs121907951 		1.000 0.120 11 57602081 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 0
dbSNP: rs1554995260
rs1554995260 		1.000 0.120 11 57602098 frameshift variant -/T delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554995260
rs1554995260 		1.000 0.120 11 57602098 frameshift variant -/T delins
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554995260
rs1554995260 		1.000 0.120 11 57602098 frameshift variant -/T delins
CUI: C0002994
Disease: Angioedema
Angioedema 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554996817
rs1554996817 		1.000 0.120 11 57614338 frameshift variant T/- delins
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1554996819
rs1554996819 		1.000 0.120 11 57614345 stop gained -/A delins
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565169419
rs1565169419 		1.000 0.120 11 57599882 stop gained A/T snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565169621
rs1565169621 		1.000 0.120 11 57600167 frameshift variant TACC/- delins
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1565173405
rs1565173405 		1.000 0.120 11 57611934 stop gained 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 0
dbSNP: rs200534715
rs200534715 		1.000 0.120 11 57600179 missense variant A/G snv 2.3E-04 3.1E-05
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I 		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
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: 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: 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: 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: 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: 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