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rs863225452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225452(-;GTGGCGCTCATCGCC)
Make rs863225452(GTGGCGCTCATCGCC;GTGGCGCTCATCGCC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138946530
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs863225452
dbSNP (old)rs863225452
ClinGenrs863225452
ebirs863225452
HLIrs863225452
Exacrs863225452
Gnomadrs863225452
Varsomers863225452
Maprs863225452
PheGenIrs863225452
Biobankrs863225452
1000 genomesrs863225452
hgdprs863225452
ensemblrs863225452
gopubmedrs863225452
geneviewrs863225452
scholarrs863225452
googlers863225452
pharmgkbrs863225452
gwascentralrs863225452
openSNPrs863225452
23andMers863225452
23andMe allrs863225452
SNP Nexus

SNPshotrs863225452
SNPdbers863225452
MSV3drs863225452
GWAS Ctlgrs863225452
Max Magnitude0
ClinVar
Risk rs863225452(GTGGCGCTCATCGCC;GTGGCGCTCATCGCC)
Alt rs863225452(GTGGCGCTCATCGCC;GTGGCGCTCATCGCC)
Reference Rs863225452(-;-)
Significance Pathogenic
Disease Blepharophimosis syndrome type 2
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis syndrome type 2
Reversed 1
HGVS NC_000003.11:g.138665373_138665387dupGGCGATGAGCGCCAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005131.2,