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rs863225453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225453(-;G)
Make rs863225453(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138945763
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs863225453
dbSNP (old)rs863225453
ClinGenrs863225453
ebirs863225453
HLIrs863225453
Exacrs863225453
Gnomadrs863225453
Varsomers863225453
Maprs863225453
PheGenIrs863225453
Biobankrs863225453
1000 genomesrs863225453
hgdprs863225453
ensemblrs863225453
gopubmedrs863225453
geneviewrs863225453
scholarrs863225453
googlers863225453
pharmgkbrs863225453
gwascentralrs863225453
openSNPrs863225453
23andMers863225453
23andMe allrs863225453
SNP Nexus

SNPshotrs863225453
SNPdbers863225453
MSV3drs863225453
GWAS Ctlgrs863225453
Max Magnitude0
ClinVar
Risk rs863225453(G;G)
Alt rs863225453(G;G)
Reference Rs863225453(-;-)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138664606dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005143.3,