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rs121434224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434224(G;T)
Make rs121434224(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209796453
GeneIRF6
is asnp
is mentioned by
dbSNPrs121434224
ebirs121434224
HLIrs121434224
Exacrs121434224
Varsomers121434224
Maprs121434224
PheGenIrs121434224
hapmaprs121434224
1000 genomesrs121434224
hgdprs121434224
ensemblrs121434224
gopubmedrs121434224
geneviewrs121434224
scholarrs121434224
googlers121434224
pharmgkbrs121434224
gwascentralrs121434224
openSNPrs121434224
23andMers121434224
23andMe allrs121434224
SNP Nexus

SNPshotrs121434224
SNPdbers121434224
MSV3drs121434224
GWAS Ctlgrs121434224
Max Magnitude0
OMIM607199
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434224(T;T)
Alt rs121434224(T;T)
Reference rs121434224(G;G)
Significance Pathogenic
Disease Van der Woude syndrome
Variation info
Gene IRF6
CLNDBN Van der Woude syndrome
Reversed 1
HGVS NC_000001.10:g.209969798C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003580.3,