Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74737358
rs74737358
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.710 GeneticVariation BEFREE In an effort to understand the severity of XP-C phenotypes, we also demonstrated that single mutations in XPC perturb other repair processes, such as base excision repair (e.g., the P334H mutation prevents the stimulation of Ogg1 glycosylase because it thwarts the interaction between XPC and Ogg1), thereby leading to a deeper understanding of the molecular repair defect of the XP-C patients. 18809580 2008
dbSNP: rs74737358
rs74737358
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		0.710 GeneticVariation UNIPROT
dbSNP: rs113043636
rs113043636
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs373519125
rs373519125
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients. 27607234 2017
dbSNP: rs1330667099
rs1330667099
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		G 0.700 CausalMutation CLINVAR A unique chromosomal in-frame deletion identified among seven XP-C patients. 27387384 2016
dbSNP: rs1402162002
rs1402162002
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		T 0.700 CausalMutation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016
dbSNP: rs1450238352
rs1450238352
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		C 0.700 CausalMutation CLINVAR A unique chromosomal in-frame deletion identified among seven XP-C patients. 27387384 2016
dbSNP: rs373519125
rs373519125
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016
dbSNP: rs754532049
rs754532049
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C0043346
Disease:
Xeroderma Pigmentosum 		G 0.700 CausalMutation CLINVAR Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG. 27413738 2016
dbSNP: rs754673606
rs754673606
Entrez Id: 7508;107986063
Gene Symbol: XPC;LOC107986063
XPC;LOC107986063
CUI: C0043346
Disease:
Xeroderma Pigmentosum 		G 0.700 CausalMutation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016
dbSNP: rs757958943
rs757958943
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016
dbSNP: rs794729654
rs794729654
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		C 0.700 CausalMutation CLINVAR A unique chromosomal in-frame deletion identified among seven XP-C patients. 27387384 2016
dbSNP: rs121965088
rs121965088
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population. 25256075 2015
dbSNP: rs1553604559
rs1553604559
Entrez Id: 7508;107986063
Gene Symbol: XPC;LOC107986063
XPC;LOC107986063
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion. 26278556 2015
dbSNP: rs745679643
rs745679643
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs746250060
rs746250060
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs754775337
rs754775337
Entrez Id: 7508;107986063
Gene Symbol: XPC;LOC107986063
XPC;LOC107986063
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs767569346
rs767569346
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		T 0.700 CausalMutation CLINVAR Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. 25566891 2015
dbSNP: rs121965088
rs121965088
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. 24218596 2013
dbSNP: rs1228981894
rs1228981894
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		C 0.700 CausalMutation CLINVAR Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations. 23173980 2013
dbSNP: rs1553605761
rs1553605761
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		CT 0.700 GeneticVariation CLINVAR Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations. 23173980 2013
dbSNP: rs374117852
rs374117852
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C0043346
Disease:
Xeroderma Pigmentosum 		A 0.700 CausalMutation CLINVAR Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. 24218596 2013
dbSNP: rs374117852
rs374117852
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. 24218596 2013
dbSNP: rs755825264
rs755825264
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C0043346
Disease:
Xeroderma Pigmentosum 		A 0.700 CausalMutation CLINVAR Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. 24218596 2013
dbSNP: rs757958943
rs757958943
Entrez Id: 7508
Gene Symbol: XPC
XPC
CUI: C2752147
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons. 24218596 2013