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rs121434227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434227(A;A)
Make rs121434227(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position209796476
GeneIRF6
is asnp
is mentioned by
dbSNPrs121434227
ebirs121434227
HLIrs121434227
Exacrs121434227
Varsomers121434227
Maprs121434227
PheGenIrs121434227
hapmaprs121434227
1000 genomesrs121434227
hgdprs121434227
ensemblrs121434227
gopubmedrs121434227
geneviewrs121434227
scholarrs121434227
googlers121434227
pharmgkbrs121434227
gwascentralrs121434227
openSNPrs121434227
23andMers121434227
23andMe allrs121434227
SNP Nexus

SNPshotrs121434227
SNPdbers121434227
MSV3drs121434227
GWAS Ctlgrs121434227
Max Magnitude0
OMIM607199
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434227(A,T;A,T)
Alt rs121434227(A,T;A,T)
Reference rs121434227(G;G)
Significance Pathogenic
Disease Popliteal pterygium syndrome
Variation info
Gene IRF6
CLNDBN Popliteal pterygium syndrome
Reversed 1
HGVS NC_000001.10:g.209969821C>A; NC_000001.10:g.209969821C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023630.4, RCV000003584.3,