XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761564262
rs761564262
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1
CUI: C4539948
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 		0.700 GeneticVariation UNIPROT XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. 28002403 2017