Have questions? Visit https://www.reddit.com/r/SNPedia

rs28937884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28937884(G;G)
Make rs28937884(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position138946472
GeneC3orf72, FOXL2
is asnp
is mentioned by
dbSNPrs28937884
ebirs28937884
HLIrs28937884
Exacrs28937884
Varsomers28937884
Maprs28937884
PheGenIrs28937884
hapmaprs28937884
1000 genomesrs28937884
hgdprs28937884
ensemblrs28937884
gopubmedrs28937884
geneviewrs28937884
scholarrs28937884
googlers28937884
pharmgkbrs28937884
gwascentralrs28937884
openSNPrs28937884
23andMers28937884
23andMe allrs28937884
SNP Nexus

SNPshotrs28937884
SNPdbers28937884
MSV3drs28937884
GWAS Ctlgrs28937884
Max Magnitude0
OMIM605597
DescBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
Variant0011
Relatedalso
Neighborrs28937885
Distance521


ClinVar
Risk rs28937884(G;G)
Alt rs28937884(G;G)
Reference rs28937884(T;T)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138665314A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005139.2,



[PMID 17277738OA-icon.png] FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.