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rs121434231

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434231(G;T)
Make rs121434231(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209790539
GeneIRF6
is asnp
is mentioned by
dbSNPrs121434231
ebirs121434231
HLIrs121434231
Exacrs121434231
Varsomers121434231
Maprs121434231
PheGenIrs121434231
hapmaprs121434231
1000 genomesrs121434231
hgdprs121434231
ensemblrs121434231
gopubmedrs121434231
geneviewrs121434231
scholarrs121434231
googlers121434231
pharmgkbrs121434231
gwascentralrs121434231
openSNPrs121434231
23andMers121434231
23andMe allrs121434231
SNP Nexus

SNPshotrs121434231
SNPdbers121434231
MSV3drs121434231
GWAS Ctlgrs121434231
Max Magnitude0
OMIM607199
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121434231(T;T)
Alt rs121434231(T;T)
Reference rs121434231(G;G)
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.209963884C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003592.4, RCV000023627.4,