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rs397515434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515434(C;T)
Make rs397515434(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209801269
GeneIRF6
is asnp
is mentioned by
dbSNPrs397515434
dbSNP (classic)rs397515434
ClinGenrs397515434
ebirs397515434
HLIrs397515434
Exacrs397515434
Gnomadrs397515434
Varsomers397515434
LitVarrs397515434
Maprs397515434
PheGenIrs397515434
Biobankrs397515434
1000 genomesrs397515434
hgdprs397515434
ensemblrs397515434
geneviewrs397515434
scholarrs397515434
googlers397515434
pharmgkbrs397515434
gwascentralrs397515434
openSNPrs397515434
23andMers397515434
SNPshotrs397515434
SNPdbers397515434
MSV3drs397515434
GWAS Ctlgrs397515434
Max Magnitude0
ClinVar
Risk rs397515434(T;T)
Alt rs397515434(T;T)
Reference Rs397515434(C;C)
Significance Pathogenic
Disease Van der Woude syndrome
Variation info
Gene IRF6
CLNDBN Van der Woude syndrome
Reversed 1
HGVS NC_000001.10:g.209974614G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033164.2,