Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434572(C;T)
Make rs121434572(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position102861621
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs121434572
ebirs121434572
HLIrs121434572
Exacrs121434572
Varsomers121434572
Maprs121434572
PheGenIrs121434572
hapmaprs121434572
1000 genomesrs121434572
hgdprs121434572
ensemblrs121434572
gopubmedrs121434572
geneviewrs121434572
scholarrs121434572
googlers121434572
pharmgkbrs121434572
gwascentralrs121434572
openSNPrs121434572
23andMers121434572
23andMe allrs121434572
SNP Nexus

SNPshotrs121434572
SNPdbers121434572
MSV3drs121434572
GWAS Ctlgrs121434572
GMAF0.0004591
Max Magnitude0
OMIM133530
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434572(T;T)
Alt rs121434572(T;T)
Reference rs121434572(C;C)
Significance Pathogenic
Disease Xeroderma pigmentosum group g/Cockayne syndrome
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN Xeroderma pigmentosum group g/Cockayne syndrome
Reversed 0
HGVS NC_000013.10:g.103513971C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018038.24,