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rs121434230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434230(C;T)
Make rs121434230(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209788638
GeneIRF6
is asnp
is mentioned by
dbSNPrs121434230
ebirs121434230
HLIrs121434230
Exacrs121434230
Varsomers121434230
Maprs121434230
PheGenIrs121434230
hapmaprs121434230
1000 genomesrs121434230
hgdprs121434230
ensemblrs121434230
gopubmedrs121434230
geneviewrs121434230
scholarrs121434230
googlers121434230
pharmgkbrs121434230
gwascentralrs121434230
openSNPrs121434230
23andMers121434230
23andMe allrs121434230
SNP Nexus

SNPshotrs121434230
SNPdbers121434230
MSV3drs121434230
GWAS Ctlgrs121434230
Max Magnitude0
OMIM607199
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121434230(T;T)
Alt rs121434230(T;T)
Reference rs121434230(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.209961983G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003591.4,