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: rs376556895
rs376556895
0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 15 1994 2016
dbSNP: rs41556519
rs41556519
0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 2 1996 2012
dbSNP: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.800 0.963 27 2003 2019
dbSNP: rs121913020
rs121913020
0.882 0.160 19 45368655 missense variant C/T snv 2.0E-05 6.3E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1994 2004
dbSNP: rs121913024
rs121913024
0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 7 1994 2004
dbSNP: rs121913018
rs121913018
1.000 0.080 19 45352226 missense variant C/G snv 2.0E-05 4.2E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1994 2001
dbSNP: rs121913020
rs121913020
0.882 0.160 19 45368655 missense variant C/T snv 2.0E-05 6.3E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1994 2001
dbSNP: rs121913021
rs121913021
0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1994 2001
dbSNP: rs121913022
rs121913022
1.000 0.080 19 45352262 missense variant C/G snv 1.4E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1994 2001
dbSNP: rs121913026
rs121913026
0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1994 2001
dbSNP: rs376556895
rs376556895
0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1994 2001
dbSNP: rs121913023
rs121913023
0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05
Cerebrooculofacioskeletal Syndrome 2
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2001 2001
dbSNP: rs121913024
rs121913024
0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05
Cerebrooculofacioskeletal Syndrome 2
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2001 2001
dbSNP: rs121913016
rs121913016
0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.720 1.000 8 1994 2004
dbSNP: rs121913019
rs121913019
0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 8 1994 2016
dbSNP: rs1360631927
rs1360631927
0.851 0.200 19 45369114 missense variant C/T snv 7.0E-06
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 8 1994 2015
dbSNP: rs121913026
rs121913026
0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 1996 1996
dbSNP: rs752510317
rs752510317
1.000 0.160 19 45352556 missense variant G/A snv 1.2E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 2015 2015
dbSNP: rs121913023
rs121913023
0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2004
dbSNP: rs121913025
rs121913025
0.925 0.240 19 45357295 missense variant A/G snv
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2004
dbSNP: rs753641926
rs753641926
1.000 0.160 19 45353113 missense variant G/A;T snv 4.4E-05; 4.0E-06
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2004
dbSNP: rs771824813
rs771824813
1.000 0.160 19 45353109 missense variant C/T snv 4.0E-06
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2004
dbSNP: rs121913016
rs121913016
0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1994 2001
dbSNP: rs370454709
rs370454709
1.000 0.080 19 45364274 missense variant C/T snv 5.6E-05 4.2E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1994 2001
dbSNP: rs762141272
rs762141272
0.882 0.160 19 45352579 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1994 2001