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rs121434225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434225(C;T)
Make rs121434225(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209789669
GeneIRF6
is asnp
is mentioned by
dbSNPrs121434225
dbSNP (classic)rs121434225
ClinGenrs121434225
ebirs121434225
HLIrs121434225
Exacrs121434225
Gnomadrs121434225
Varsomers121434225
LitVarrs121434225
Maprs121434225
PheGenIrs121434225
Biobankrs121434225
1000 genomesrs121434225
hgdprs121434225
ensemblrs121434225
geneviewrs121434225
scholarrs121434225
googlers121434225
pharmgkbrs121434225
gwascentralrs121434225
openSNPrs121434225
23andMers121434225
SNPshotrs121434225
SNPdbers121434225
MSV3drs121434225
GWAS Ctlgrs121434225
Max Magnitude0
OMIM607199
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434225(T;T)
Alt rs121434225(T;T)
Reference Rs121434225(C;C)
Significance Pathogenic
Disease Popliteal pterygium syndrome
Variation info
Gene IRF6
CLNDBN Popliteal pterygium syndrome
Reversed 1
HGVS NC_000001.10:g.209963014G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003582.3,