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: rs121913045
rs121913045 		0.882 0.240 2 127292785 missense variant A/G snv 4.0E-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: rs121913046
rs121913046 		0.882 0.240 2 127292726 missense variant T/G snv
CUI: C4225344
Disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE 		0.800 0
dbSNP: rs121913047
rs121913047 		1.000 0.160 2 127286772 stop gained G/A;T snv 8.0E-06; 4.0E-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: 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: rs138385061
rs138385061 		1.000 0.160 2 127289763 stop gained G/A;C snv 1.6E-05; 8.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs138385061
rs138385061 		1.000 0.160 2 127289763 stop gained G/A;C snv 1.6E-05; 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: rs1558964705
rs1558964705 		1.000 0.160 2 127292609 splice donor variant C/T snv
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: rs34295337
rs34295337 		1.000 0.160 2 127292756 stop gained G/A snv 5.3E-04 2.9E-04
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: 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: rs866379139
rs866379139 		1.000 0.160 2 127289349 frameshift variant AA/- delins 2.4E-05 2.1E-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: rs121913045
rs121913045 		0.882 0.240 2 127292785 missense variant A/G snv 4.0E-06
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913045
rs121913045 		0.882 0.240 2 127292785 missense variant A/G snv 4.0E-06
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913046
rs121913046 		0.882 0.240 2 127292726 missense variant T/G snv
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121913046
rs121913046 		0.882 0.240 2 127292726 missense variant T/G snv
CUI: C4304411
Disease: Xeroderma pigmentosum and Cockayne syndrome complex
Xeroderma pigmentosum and Cockayne syndrome complex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 1999 1999
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: rs758857467
rs758857467 		2 127286983 synonymous variant T/C snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs758857467
rs758857467 		2 127286983 synonymous variant T/C snv 4.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2005 2005
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: 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: rs3768866
rs3768866 		2 127287839 intron variant G/A snv 0.35
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs3768866
rs3768866 		2 127287839 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: rs4150402
rs4150402 		2 127292558 3 prime UTR variant T/C snv 0.76
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010