C1R, complement C1r, 715

N. diseases: 96; N. variants: 18
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: rs760277934
rs760277934 		0.925 0.160 12 7088853 missense variant C/G;T snv 4.1E-06
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2016 2016
dbSNP: rs769707492
rs769707492 		0.925 0.160 12 7088721 stop gained G/A;C;T snv 4.1E-06
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2016 2016
dbSNP: rs1057515579
rs1057515579 		0.925 0.160 12 7088856 missense variant A/G snv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs1057518643
rs1057518643 		0.925 0.160 12 7088886 missense variant T/C snv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs1057518645
rs1057518645 		0.925 0.160 12 7086423 missense variant C/A snv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs1057519026
rs1057519026 		0.925 0.160 12 7088865 missense variant C/T snv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs6488561
rs6488561 		12 7094298 intron variant G/A snv 0.36
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs1126605
rs1126605 		12 7089608 missense variant C/G;T snv 0.11 0.11
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs139531404
rs139531404 		12 7090144 missense variant C/G snv 2.8E-03 2.7E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057515579
rs1057515579 		0.925 0.160 12 7088856 missense variant A/G snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057518643
rs1057518643 		0.925 0.160 12 7088886 missense variant T/C snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057518645
rs1057518645 		0.925 0.160 12 7086423 missense variant C/A snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057518646
rs1057518646 		0.925 0.160 12 7088721 protein altering variant GCACTTGATGA/TGTCC delins
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057518646
rs1057518646 		0.925 0.160 12 7088721 protein altering variant GCACTTGATGA/TGTCC delins
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057519025
rs1057519025 		0.925 0.160 12 7091533 missense variant GA/AT mnv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057519025
rs1057519025 		0.925 0.160 12 7091533 missense variant GA/AT mnv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519026
rs1057519026 		0.925 0.160 12 7088865 missense variant C/T snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057519576
rs1057519576 		0.925 0.160 12 7088850 missense variant T/C snv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519576
rs1057519576 		0.925 0.160 12 7088850 missense variant T/C snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057519577
rs1057519577 		0.925 0.160 12 7088636 missense variant A/G snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057519577
rs1057519577 		0.925 0.160 12 7088636 missense variant A/G snv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519578
rs1057519578 		0.925 0.160 12 7086404 stop gained C/G;T snv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519578
rs1057519578 		0.925 0.160 12 7086404 stop gained C/G;T snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057519579
rs1057519579 		0.925 0.160 12 7086383 missense variant G/C snv
CUI: C4310681
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 		0.700 0
dbSNP: rs1057519579
rs1057519579 		0.925 0.160 12 7086383 missense variant G/C snv
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0