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rs121434229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434229(A;A)
Make rs121434229(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position209801280
GeneIRF6
is asnp
is mentioned by
dbSNPrs121434229
ebirs121434229
HLIrs121434229
Exacrs121434229
Varsomers121434229
Maprs121434229
PheGenIrs121434229
hapmaprs121434229
1000 genomesrs121434229
hgdprs121434229
ensemblrs121434229
gopubmedrs121434229
geneviewrs121434229
scholarrs121434229
googlers121434229
pharmgkbrs121434229
gwascentralrs121434229
openSNPrs121434229
23andMers121434229
23andMe allrs121434229
SNP Nexus

SNPshotrs121434229
SNPdbers121434229
MSV3drs121434229
GWAS Ctlgrs121434229
GMAF0.0004591
Max Magnitude0
OMIM607199
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121434229(A;A)
Alt rs121434229(A;A)
Reference rs121434229(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.209974625C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003590.4,