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rs397509402

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397509402(C;C)
Make rs397509402(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position13928132
GeneERCC4
is asnp
is mentioned by
dbSNPrs397509402
dbSNP (classic)rs397509402
ClinGenrs397509402
ebirs397509402
HLIrs397509402
Exacrs397509402
Gnomadrs397509402
Varsomers397509402
LitVarrs397509402
Maprs397509402
PheGenIrs397509402
Biobankrs397509402
1000 genomesrs397509402
hgdprs397509402
ensemblrs397509402
geneviewrs397509402
scholarrs397509402
googlers397509402
pharmgkbrs397509402
gwascentralrs397509402
openSNPrs397509402
23andMers397509402
SNPshotrs397509402
SNPdbers397509402
MSV3drs397509402
GWAS Ctlgrs397509402
Max Magnitude0
ClinVar
Risk rs397509402(C;C)
Alt rs397509402(C;C)
Reference Rs397509402(T;T)
Significance Pathogenic
Disease Fanconi anemia
Variation info
Gene ERCC4
CLNDBN Fanconi anemia, complementation group Q
Reversed 0
HGVS NC_000016.9:g.14021989T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000049247.28,