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rs121434228

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434228(A;A)
Make rs121434228(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position209789709
GeneIRF6
is asnp
is mentioned by
dbSNPrs121434228
ebirs121434228
HLIrs121434228
Exacrs121434228
Varsomers121434228
Maprs121434228
PheGenIrs121434228
hapmaprs121434228
1000 genomesrs121434228
hgdprs121434228
ensemblrs121434228
gopubmedrs121434228
geneviewrs121434228
scholarrs121434228
googlers121434228
pharmgkbrs121434228
gwascentralrs121434228
openSNPrs121434228
23andMers121434228
23andMe allrs121434228
SNP Nexus

SNPshotrs121434228
SNPdbers121434228
MSV3drs121434228
GWAS Ctlgrs121434228
Max Magnitude0
OMIM607199
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121434228(A;A)
Alt rs121434228(A;A)
Reference rs121434228(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.209963054C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003587.5,