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rs104893739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893739(C;T)
Make rs104893739(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position138946137
GeneC3orf72, FOXL2
is asnp
is mentioned by
dbSNPrs104893739
ebirs104893739
HLIrs104893739
Exacrs104893739
Varsomers104893739
Maprs104893739
PheGenIrs104893739
hapmaprs104893739
1000 genomesrs104893739
hgdprs104893739
ensemblrs104893739
gopubmedrs104893739
geneviewrs104893739
scholarrs104893739
googlers104893739
pharmgkbrs104893739
gwascentralrs104893739
openSNPrs104893739
23andMers104893739
23andMe allrs104893739
SNP Nexus

SNPshotrs104893739
SNPdbers104893739
MSV3drs104893739
GWAS Ctlgrs104893739
Max Magnitude0
OMIM605597
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104893739(T;T)
Alt rs104893739(T;T)
Reference rs104893739(C;C)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664979G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005141.2,