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
0.846 0.143 19 45357368 missense variant G/C snp 1.2E-03 3.5E-04
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.820 1.000 2 1995 1996
dbSNP: rs41556519
rs41556519
0.846 0.143 19 45352352 missense variant G/A snp 6.0E-05 6.4E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.810 1.000 5 1993 2012
dbSNP: rs121913024
rs121913024
0.846 0.357 19 45352802 missense variant G/A snp 5.6E-05 6.4E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 2 2001 2001
dbSNP: rs758439420
rs758439420
1.000 0.143 19 45352351 missense variant C/A,T snp 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 0.800 2 1993 2012
dbSNP: rs121913019
rs121913019
1.000 0.143 19 45354774 missense variant T/C,G snp 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 0.800 1 1997 1997
dbSNP: rs121913025
rs121913025
1.000 0.143 19 45357295 missense variant A/G snp
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 2002 2002
dbSNP: rs121913020
rs121913020
0.821 0.143 19 45368655 missense variant C/T snp 2.0E-05 3.2E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs376556895
rs376556895
0.801 0.357 19 45352801 missense variant C/G,T snp 1.5E-04; 8.0E-06 9.6E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 1 1996 1996
dbSNP: rs752510317
rs752510317
1.000 0.143 19 45352556 missense variant G/A snp 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 2016 2016
dbSNP: rs121913017
rs121913017
1.000 0.143 19 45352223 stop gained G/A,C snp 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 1995 1995
dbSNP: rs762309206
rs762309206
0.923 0.143 19 45364833 splice donor variant CCTCA/C in-del
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 2015 2015
dbSNP: rs121913023
rs121913023
0.846 0.357 19 45352511 missense variant C/T snp 2.0E-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: rs140522180
rs140522180
1.000 0.143 19 45353112 missense variant C/A,T snp 2.0E-05; 1.9E-04 3.2E-05; 1.3E-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: rs753641926
rs753641926
1.000 0.143 19 45353113 missense variant G/A,T snp 4.4E-05; 4.0E-06 3.2E-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: rs771824813
rs771824813
1.000 0.143 19 45353109 missense variant C/T snp 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: rs772572683
rs772572683
1.000 0.143 19 45355676 missense variant C/T snp 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: rs774768228
rs774768228
0.923 0.143 19 45352505 splice donor variant C/G snp 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: rs13181
rs13181
0.525 0.536 19 45351661 stop gained T/A,G snp 4.0E-06; 0.32 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 1.000 15 2003 2016
dbSNP: rs1799793
rs1799793
0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.080 1.000 8 2003 2014
dbSNP: rs755174338
rs755174338
0.821 0.179 19 45364096 missense variant C/T snp 2.6E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2006 2016
dbSNP: rs121913021
rs121913021
0.846 0.143 19 45352580 missense variant G/A snp 2.8E-05 3.2E-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: rs121913026
rs121913026
0.846 0.143 19 45352235 missense variant G/A snp 2.4E-05 9.6E-05
Xeroderma Pigmentosum, Complementation Group D
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 1996 1996
dbSNP: rs756340448
rs756340448
0.846 0.214 19 45369135 missense variant G/A snp 4.0E-06 3.2E-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 2013 2013
dbSNP: rs762141272
rs762141272
0.846 0.143 19 45352579 missense variant C/T snp 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 0.010 1.000 1 1996 1996