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rs267607280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607280(C;C)
Make rs267607280(C;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position102873283
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs267607280
ebirs267607280
HLIrs267607280
Exacrs267607280
Varsomers267607280
Maprs267607280
PheGenIrs267607280
hapmaprs267607280
1000 genomesrs267607280
hgdprs267607280
ensemblrs267607280
gopubmedrs267607280
geneviewrs267607280
scholarrs267607280
googlers267607280
pharmgkbrs267607280
gwascentralrs267607280
openSNPrs267607280
23andMers267607280
23andMe allrs267607280
SNP Nexus

SNPshotrs267607280
SNPdbers267607280
MSV3drs267607280
GWAS Ctlgrs267607280
Max Magnitude0
ClinVar
Risk rs267607280(C;C)
Alt rs267607280(C;C)
Reference rs267607280(G;G)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Xeroderma pigmentosum, group G
Reversed 0
HGVS NC_000013.10:g.103525633G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000034377.30,