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: rs397509402
rs397509402 		1.000 16 13928132 missense variant T/C snv 4.0E-06
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.800 1.000 2 2013 2013
dbSNP: rs121913050
rs121913050 		0.882 0.240 16 13926630 missense variant G/A;C;T snv 2.4E-05; 4.0E-06; 4.0E-06
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 0
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 7 2010 2018
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 6 2010 2016
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 6 2010 2016
dbSNP: rs121913049
rs121913049 		0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2011
dbSNP: rs764731249
rs764731249 		1.000 0.160 16 13928118 missense variant A/G snv 4.0E-06
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 1999
dbSNP: rs769679311
rs769679311 		1.000 0.160 16 13935469 missense variant G/A snv 4.0E-06
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 1999
dbSNP: rs1451008479
rs1451008479 		1.000 16 13947953 missense variant C/T snv 4.0E-06
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 2 2013 2013
dbSNP: rs1555468482
rs1555468482 		0.882 0.240 16 13935663 frameshift variant C/- del
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1555468482
rs1555468482 		0.882 0.240 16 13935663 frameshift variant C/- del
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 1.000 1 2013 2013
dbSNP: rs1555468482
rs1555468482 		0.882 0.240 16 13935663 frameshift variant C/- del
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs397509403
rs397509403 		0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs121913049
rs121913049 		0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 		0.700 0
dbSNP: rs147105770
rs147105770 		0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs149364215
rs149364215 		1.000 16 13947661 missense variant C/A;T snv 8.0E-06; 4.0E-06
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 0
dbSNP: rs397509400
rs397509400 		0.925 16 13935414 splice donor variant CTCAA/- delins
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 0
dbSNP: rs397509400
rs397509400 		0.925 16 13935414 splice donor variant CTCAA/- delins
CUI: C0349636
Disease: Pre B-cell acute lymphoblastic leukemia
Pre B-cell acute lymphoblastic leukemia 		0.700 0
dbSNP: rs397509401
rs397509401 		1.000 16 13947966 frameshift variant -/CTTACACTTCACTTCCCCAGACTACGGA delins
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.700 0
dbSNP: rs397509403
rs397509403 		0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 		0.700 0
dbSNP: rs397509404
rs397509404 		1.000 16 13935661 stop gained -/A delins
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 		0.700 0
dbSNP: rs869025184
rs869025184 		1.000 0.160 16 13947896 frameshift variant TCTC/- delins
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs912480692
rs912480692 		1.000 0.160 16 13935401 missense variant G/A snv
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.060 1.000 6 2013 2017