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rs121909106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909106(C;T)
Make rs121909106(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position86567709
GeneFOXC2, FOXC2-AS1
is asnp
is mentioned by
dbSNPrs121909106
dbSNP (classic)rs121909106
ClinGenrs121909106
ebirs121909106
HLIrs121909106
Exacrs121909106
Gnomadrs121909106
Varsomers121909106
LitVarrs121909106
Maprs121909106
PheGenIrs121909106
Biobankrs121909106
1000 genomesrs121909106
hgdprs121909106
ensemblrs121909106
geneviewrs121909106
scholarrs121909106
googlers121909106
pharmgkbrs121909106
gwascentralrs121909106
openSNPrs121909106
23andMers121909106
SNPshotrs121909106
SNPdbers121909106
MSV3drs121909106
GWAS Ctlgrs121909106
Max Magnitude0

Reported to be associated with Lymphedema-distichiasis syndrome.

See OMIM 602402.0012

OMIM602402
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909106(T;T)
Alt rs121909106(T;T)
Reference Rs121909106(C;C)
Significance Pathogenic
Disease Distichiasis-lymphedema syndrome
Variation info
Gene FOXC2 FOXC2-AS1
CLNDBN Distichiasis-lymphedema syndrome
Reversed 0
HGVS NC_000016.9:g.86601315C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007682.2,