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: 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: 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: 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: rs587778271
rs587778271
0.925 0.160 19 45353296 frameshift variant AA/- delins 2.0E-04
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 3 2001 2016
dbSNP: rs121913021
rs121913021
0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1996 1996
dbSNP: rs746795177
rs746795177
1.000 0.160 19 45364121 splice acceptor variant T/C snv 1.3E-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 1 2016 2016
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: rs758439420
rs758439420
1.000 0.160 19 45352351 missense variant C/A;T snv 8.0E-06; 1.6E-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 1 2012 2012
dbSNP: rs762141272
rs762141272
0.882 0.160 19 45352579 missense variant C/T snv 1.6E-05 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 0.010 1.000 1 1996 1996
dbSNP: rs767747355
rs767747355
1.000 0.160 19 45364838 frameshift variant GAGT/- delins 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 0.010 < 0.001 1 2016 2016
dbSNP: rs1340806384
rs1340806384
1.000 0.160 19 45364442 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 0
dbSNP: rs140522180
rs140522180
1.000 0.160 19 45353112 missense variant C/A;T snv 2.0E-05; 1.9E-04
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs144564120
rs144564120
0.925 0.160 19 45352249 missense variant G/C snv 3.1E-04 2.9E-04
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1568546120
rs1568546120
1.000 0.160 19 45368993 splice acceptor variant C/A 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 0
dbSNP: rs1568546252
rs1568546252
1.000 0.160 19 45369132 stop gained C/A 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 0
dbSNP: rs762309206
rs762309206
0.925 0.160 19 45364833 splice donor variant CACT/- delins 1.1E-04
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs772572683
rs772572683
1.000 0.160 19 45355676 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 0
dbSNP: rs964247601
rs964247601
1.000 0.160 19 45368692 stop gained C/A;T 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 0.700 0
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: rs139002770
rs139002770
0.925 0.200 19 45352772 missense variant C/T snv 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 0.010 1.000 1 2006 2006
dbSNP: rs369012533
rs369012533
0.925 0.200 19 45352765 missense variant G/A 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 0.010 1.000 1 2006 2006
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: 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: rs756340448
rs756340448
0.790 0.240 19 45369135 synonymous variant G/A snv 4.0E-06 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 0.010 1.000 1 2013 2013