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rs104894516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894516(C;G)
Make rs104894516(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position86567632
GeneFOXC2, FOXC2-AS1
is asnp
is mentioned by
dbSNPrs104894516
dbSNP (classic)rs104894516
ClinGenrs104894516
ebirs104894516
HLIrs104894516
Exacrs104894516
Gnomadrs104894516
Varsomers104894516
LitVarrs104894516
Maprs104894516
PheGenIrs104894516
Biobankrs104894516
1000 genomesrs104894516
hgdprs104894516
ensemblrs104894516
geneviewrs104894516
scholarrs104894516
googlers104894516
pharmgkbrs104894516
gwascentralrs104894516
openSNPrs104894516
23andMers104894516
SNPshotrs104894516
SNPdbers104894516
MSV3drs104894516
GWAS Ctlgrs104894516
Max Magnitude0

Reported to be associated with Lymphedema-distichiasis syndrome.

See OMIM 602402.0001

OMIM602402
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894516(G;G)
Alt rs104894516(G;G)
Reference Rs104894516(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.86601238C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007671.3,