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rs9514067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs9514067(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position102875580
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs9514067
ebirs9514067
HLIrs9514067
Exacrs9514067
Varsomers9514067
Maprs9514067
PheGenIrs9514067
hapmaprs9514067
1000 genomesrs9514067
hgdprs9514067
ensemblrs9514067
gopubmedrs9514067
geneviewrs9514067
scholarrs9514067
googlers9514067
pharmgkbrs9514067
gwascentralrs9514067
openSNPrs9514067
23andMers9514067
23andMe allrs9514067
SNP Nexus

SNPshotrs9514067
SNPdbers9514067
MSV3drs9514067
GWAS Ctlgrs9514067
GMAF0.0005
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene ERCC5
allele C
frequency
sift TOLERATED
HuRef 1103649319963
Disease Association Defects in ERCC5 are a cause of Cockayne syndrome (CS) (MIM:216400). CS is an autosomal recessive disease which is characterized by a UV-sensitive skin (without pigmentation abnormalities), neurological dysfunction due to demyelination of neurons and calcification of basal ganglia (psychomotor retardation, deafness, optic atrophy, retinal pigmentation and hyperreflexes), and dysmorphic dwarfism (immature sexual development and microcephaly).



Neighborrs17655
Distance72


GET Evidence
ERCC5-G1080R
aa_change Gly1080Arg
aa_change_short G1080R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs9514067(C,T;C,T)
Alt rs9514067(C,T;C,T)
Reference rs9514067(G;G)
Significance Probable-Pathogenic
Disease not specified Xeroderma pigmentosum
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN not specified Xeroderma pigmentosum, group G
Reversed 0
HGVS NC_000013.10:g.103527930G>C; NC_000013.10:g.103527930G>T
CLNSRC
CLNACC RCV000120846.1, RCV000190581.1,