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rs863225450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs863225450(-;-)
Make rs863225450(-;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138946669
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs863225450
ClinGenrs863225450
ebirs863225450
HLIrs863225450
Exacrs863225450
Varsomers863225450
Maprs863225450
PheGenIrs863225450
hapmaprs863225450
1000 genomesrs863225450
hgdprs863225450
ensemblrs863225450
gopubmedrs863225450
geneviewrs863225450
scholarrs863225450
googlers863225450
pharmgkbrs863225450
gwascentralrs863225450
openSNPrs863225450
23andMers863225450
23andMe allrs863225450
SNP Nexus

SNPshotrs863225450
SNPdbers863225450
MSV3drs863225450
GWAS Ctlgrs863225450
Max Magnitude0
ClinVar
Risk rs863225450(-;-)
Alt rs863225450(-;-)
Reference Rs863225450(CA;CA)
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.138665511_138665512delTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005129.2,