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rs121909339

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909339(C;T)
Make rs121909339(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position1610803
GeneFOXC1
is asnp
is mentioned by
dbSNPrs121909339
dbSNP (classic)rs121909339
ClinGenrs121909339
ebirs121909339
HLIrs121909339
Exacrs121909339
Gnomadrs121909339
Varsomers121909339
LitVarrs121909339
Maprs121909339
PheGenIrs121909339
Biobankrs121909339
1000 genomesrs121909339
hgdprs121909339
ensemblrs121909339
geneviewrs121909339
scholarrs121909339
googlers121909339
pharmgkbrs121909339
gwascentralrs121909339
openSNPrs121909339
23andMers121909339
SNPshotrs121909339
SNPdbers121909339
MSV3drs121909339
GWAS Ctlgrs121909339
Max Magnitude0
OMIM601090
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909339(T;T)
Alt rs121909339(T;T)
Reference Rs121909339(C;C)
Significance Pathogenic
Disease Axenfeld-Rieger syndrome type 3
Variation info
Gene FOXC1
CLNDBN Axenfeld-Rieger syndrome type 3
Reversed 0
HGVS NC_000006.11:g.1611038C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008981.4,