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rs397509403

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397509403(C;C)
Make rs397509403(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position13928149
GeneERCC4
is asnp
is mentioned by
dbSNPrs397509403
dbSNP (classic)rs397509403
ClinGenrs397509403
ebirs397509403
HLIrs397509403
Exacrs397509403
Gnomadrs397509403
Varsomers397509403
LitVarrs397509403
Maprs397509403
PheGenIrs397509403
Biobankrs397509403
1000 genomesrs397509403
hgdprs397509403
ensemblrs397509403
geneviewrs397509403
scholarrs397509403
googlers397509403
pharmgkbrs397509403
gwascentralrs397509403
openSNPrs397509403
23andMers397509403
SNPshotrs397509403
SNPdbers397509403
MSV3drs397509403
GWAS Ctlgrs397509403
Max Magnitude0
ClinVar
Risk rs397509403(C;C)
Alt rs397509403(C;C)
Reference Rs397509403(T;T)
Significance Pathogenic
Disease Xeroderma pigmentosum
Variation info
Gene ERCC4
CLNDBN Xeroderma pigmentosum, type f/Cockayne syndrome
Reversed 0
HGVS NC_000016.9:g.14022006T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049248.28,