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rs121434226

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434226(C;T)
Make rs121434226(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209796477
GeneIRF6
is asnp
is mentioned by
dbSNPrs121434226
dbSNP (classic)rs121434226
ClinGenrs121434226
ebirs121434226
HLIrs121434226
Exacrs121434226
Gnomadrs121434226
Varsomers121434226
LitVarrs121434226
Maprs121434226
PheGenIrs121434226
Biobankrs121434226
1000 genomesrs121434226
hgdprs121434226
ensemblrs121434226
geneviewrs121434226
scholarrs121434226
googlers121434226
pharmgkbrs121434226
gwascentralrs121434226
openSNPrs121434226
23andMers121434226
SNPshotrs121434226
SNPdbers121434226
MSV3drs121434226
GWAS Ctlgrs121434226
Max Magnitude0
OMIM607199
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434226(T;T)
Alt rs121434226(T;T)
Reference Rs121434226(C;C)
Significance Pathogenic
Disease Popliteal pterygium syndrome not provided
Variation info
Gene IRF6
CLNDBN Popliteal pterygium syndrome not provided
Reversed 1
HGVS NC_000001.10:g.209969822G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003583.4, RCV000255145.1,