C9, complement C9, 735

N. diseases: 62; N. variants: 32
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: rs121909593
rs121909593 		1.000 0.080 5 39341267 missense variant A/C snv 3.2E-04 1.3E-04
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 1 1998 1998
dbSNP: rs34882957
rs34882957 		0.925 0.040 5 39331792 missense variant G/A snv 5.2E-03 6.1E-03
CUI: C3810042
Disease: MACULAR DEGENERATION, AGE-RELATED, 15
MACULAR DEGENERATION, AGE-RELATED, 15 		0.800 1.000 1 2013 2013
dbSNP: rs11951093
rs11951093 		5 39421634 intron variant G/A snv 0.37
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2019 2019
dbSNP: rs11959928
rs11959928 		1.000 0.080 5 39397030 intron variant T/A snv 0.39
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 2 2010 2012
dbSNP: rs11959928
rs11959928 		1.000 0.080 5 39397030 intron variant T/A snv 0.39
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 2 2010 2016
dbSNP: rs11959928
rs11959928 		1.000 0.080 5 39397030 intron variant T/A snv 0.39
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2016 2019
dbSNP: rs10062079
rs10062079 		5 39393631 intron variant G/A snv 0.39
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs10064820
rs10064820 		1.000 0.040 5 39324690 intron variant G/A snv 3.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11953280
rs11953280 		1.000 0.040 5 39314645 intron variant T/C snv 8.0E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11959928
rs11959928 		1.000 0.080 5 39397030 intron variant T/A snv 0.39
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2010 2010
dbSNP: rs12153248
rs12153248 		5 39400203 intron variant C/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs13165067
rs13165067 		1.000 0.040 5 39332304 intron variant C/T snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13354342
rs13354342 		1.000 0.040 5 39318734 intron variant G/A snv 3.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1362800
rs1362800 		1.000 0.080 5 39378013 intron variant C/T snv 0.33
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1362800
rs1362800 		1.000 0.080 5 39378013 intron variant C/T snv 0.33
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs138107037
rs138107037 		5 39404425 intron variant T/- del 0.33
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs155377
rs155377 		1.000 0.040 5 39308949 intron variant T/C snv 0.41
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1818782
rs1818782 		5 39424526 intron variant A/C snv 0.56
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1818782
rs1818782 		5 39424526 intron variant A/C snv 0.56
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1818782
rs1818782 		5 39424526 intron variant A/C snv 0.56
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs187875
rs187875 		1.000 0.040 5 39315643 intron variant G/A snv 0.29
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2255280
rs2255280 		0.925 0.120 5 39394887 intron variant C/A snv 0.98
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2255280
rs2255280 		0.925 0.120 5 39394887 intron variant C/A snv 0.98
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2542705
rs2542705 		1.000 0.040 5 39316320 intron variant C/T snv 0.40
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2542713
rs2542713 		1.000 0.040 5 39385539 intron variant A/C;G snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019