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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
dbSNP (classic)rs9514067
ClinGenrs9514067
ebirs9514067
HLIrs9514067
Exacrs9514067
Gnomadrs9514067
Varsomers9514067
LitVarrs9514067
Maprs9514067
PheGenIrs9514067
Biobankrs9514067
1000 genomesrs9514067
hgdprs9514067
ensemblrs9514067
geneviewrs9514067
scholarrs9514067
googlers9514067
pharmgkbrs9514067
gwascentralrs9514067
openSNPrs9514067
23andMers9514067
SNPshotrs9514067
SNPdbers9514067
MSV3drs9514067
GWAS Ctlgrs9514067
GMAF0.0005
Max Magnitude0
? (C;C) (C;G) (G;G) 28





ClinVar
Risk Rs9514067(C;C) rs9514067(T;T)
Alt Rs9514067(C;C) rs9514067(T;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,