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: 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: 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: 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: rs1565173309
rs1565173309 		1.000 0.120 11 57611793 frameshift variant A/- del
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1005510
rs1005510 		1.000 0.040 11 57599749 intron variant C/T snv 0.39
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2010 2010
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: rs141075266
rs141075266 		1.000 0.040 11 57611732 missense variant C/T snv 6.4E-05 6.3E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018