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: 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: 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: 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: 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: 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: 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: 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: rs13181
rs13181
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.100 0.938 32 2001 2019
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: 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: 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: rs1799793
rs1799793
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.100 0.917 12 2003 2016
dbSNP: rs238406
rs238406
0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65
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 2009 2009
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: 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: 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: 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: 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