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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: rs1565171906
rs1565171906 		1.000 0.120 11 57606530 stop gained 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 1 2018 2018
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