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rs387906967

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906967(C;C)
Make rs387906967(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209801349
GeneIRF6
is asnp
is mentioned by
dbSNPrs387906967
dbSNP (classic)rs387906967
ClinGenrs387906967
ebirs387906967
HLIrs387906967
Exacrs387906967
Gnomadrs387906967
Varsomers387906967
LitVarrs387906967
Maprs387906967
PheGenIrs387906967
Biobankrs387906967
1000 genomesrs387906967
hgdprs387906967
ensemblrs387906967
geneviewrs387906967
scholarrs387906967
googlers387906967
pharmgkbrs387906967
gwascentralrs387906967
openSNPrs387906967
23andMers387906967
SNPshotrs387906967
SNPdbers387906967
MSV3drs387906967
GWAS Ctlgrs387906967
Max Magnitude0
ClinVar
Risk rs387906967(C;C)
Alt rs387906967(C;C)
Reference Rs387906967(T;T)
Significance Pathogenic
Disease Van der Woude syndrome Popliteal pterygium syndrome
Variation info
Gene IRF6
CLNDBN Van der Woude syndrome Popliteal pterygium syndrome
Reversed 1
HGVS NC_000001.10:g.209974694A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023628.3, RCV000023629.3,