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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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