Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1208223013
rs1208223013
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		TC 0.700 GeneticVariation CLINVAR

dbSNP: rs121965088
rs121965088
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population. 25256075

2015
dbSNP: rs121965088
rs121965088
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
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: rs121965088
rs121965088
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. 11511294

2001
dbSNP: rs121965088
rs121965088
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. 10766188

2000
dbSNP: rs1228981894
rs1228981894
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
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: rs1260189637
rs1260189637
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		T 0.700 CausalMutation CLINVAR Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels. 10766188

2000
dbSNP: rs1281090187
rs1281090187
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1309116467
rs1309116467
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		AG 0.700 GeneticVariation CLINVAR

dbSNP: rs1326646197
rs1326646197
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1330667099
rs1330667099
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
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: rs1330667099
rs1330667099
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		G 0.700 CausalMutation CLINVAR Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients. 16081512

2006
dbSNP: rs1402162002
rs1402162002
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
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: rs1402162002
rs1402162002
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		T 0.700 CausalMutation CLINVAR Xeroderma pigmentosum group C in an isolated region of Guatemala. 16990803

2007
dbSNP: rs1423398589
rs1423398589
XPC ; LSM3
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1450238352
rs1450238352
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
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: rs1553604549
rs1553604549
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		TA 0.700 GeneticVariation CLINVAR

dbSNP: rs1553604552
rs1553604552
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1553604559
rs1553604559
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
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: rs1553604559
rs1553604559
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 CausalMutation CLINVAR A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. 20054342

2010
dbSNP: rs1553604570
rs1553604570
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553604620
rs1553604620
XPC ; LOC107986063
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553605023
rs1553605023
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553605497
rs1553605497
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553605655
rs1553605655
XPC
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		T 0.700 GeneticVariation CLINVAR