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rs387906920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906920(A;A)
Make rs387906920(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position138946518
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs387906920
dbSNP (old)rs387906920
ClinGenrs387906920
ebirs387906920
HLIrs387906920
Exacrs387906920
Gnomadrs387906920
Varsomers387906920
Maprs387906920
PheGenIrs387906920
Biobankrs387906920
1000 genomesrs387906920
hgdprs387906920
ensemblrs387906920
gopubmedrs387906920
geneviewrs387906920
scholarrs387906920
googlers387906920
pharmgkbrs387906920
gwascentralrs387906920
openSNPrs387906920
23andMers387906920
23andMe allrs387906920
SNP Nexus

SNPshotrs387906920
SNPdbers387906920
MSV3drs387906920
GWAS Ctlgrs387906920
Max Magnitude0
ClinVar
Risk rs387906920(A;A) rs387906920(T;T)
Alt rs387906920(A;A) rs387906920(T;T)
Reference Rs387906920(G;G)
Significance Pathogenic
Disease Blepharophimosis Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138665360C>A; NC_000003.11:g.138665360C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000408818.1, RCV000023464.2,