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: rs4662718
rs4662718 		2 127257791 intron variant C/T snv 0.74
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4662718
rs4662718 		2 127257791 intron variant C/T snv 0.74
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1566823
rs1566823 		2 127260616 non coding transcript exon variant A/G snv 0.37
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1566823
rs1566823 		2 127260616 non coding transcript exon variant A/G snv 0.37
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1232856265
rs1232856265 		0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1232856265
rs1232856265 		0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2001 2001
dbSNP: rs4150506
rs4150506 		0.851 0.120 2 127262970 intron variant G/A snv 0.18
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4150506
rs4150506 		0.851 0.120 2 127262970 intron variant G/A snv 0.18
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs4150506
rs4150506 		0.851 0.120 2 127262970 intron variant G/A snv 0.18
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs4150506
rs4150506 		0.851 0.120 2 127262970 intron variant G/A snv 0.18
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs4150496
rs4150496 		2 127271927 intron variant C/A;T snv 0.35
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150496
rs4150496 		2 127271927 intron variant C/A;T snv 0.35
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2134794
rs2134794 		2 127273303 intron variant A/C snv 0.20
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4150477
rs4150477 		2 127274970 intron variant G/A snv 0.35
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150477
rs4150477 		2 127274970 intron variant G/A snv 0.35
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150474
rs4150474 		2 127275751 intron variant C/A snv 0.74
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150474
rs4150474 		2 127275751 intron variant C/A snv 0.74
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150471
rs4150471 		2 127276963 intron variant A/G snv 0.76
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150471
rs4150471 		2 127276963 intron variant A/G snv 0.76
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs121913048
rs121913048 		1.000 0.160 2 127279270 stop gained G/A snv 8.0E-06
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1011019
rs1011019 		2 127279984 intron variant A/G;T snv 0.75
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1011019
rs1011019 		2 127279984 intron variant A/G;T snv 0.75
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs587778281
rs587778281 		1.000 0.160 2 127280552 frameshift variant -/T delins 6.3E-05
CUI: C0268136
Disease: Xeroderma pigmentosum, group B
Xeroderma pigmentosum, group B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs4150454
rs4150454 		2 127280968 synonymous variant T/C snv 0.37
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs4150454
rs4150454 		2 127280968 synonymous variant T/C snv 0.37
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010