Disease: Photosensitive Trichothiodystrophy ×
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: 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: 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
dbSNP: rs770367713
rs770367713 		1.000 0.080 19 45352565 missense variant A/G snv 8.0E-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
dbSNP: rs41556519
rs41556519 		0.807 0.400 19 45352352 missense variant G/A snv 6.0E-05 2.8E-05
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs762309206
rs762309206 		0.925 0.160 19 45364833 splice donor variant CACT/- delins 1.1E-04
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0