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rs863225451

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863225451(-;ACCGCCGC)
Make rs863225451(ACCGCCGC;ACCGCCGC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138945803
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs863225451
ClinGenrs863225451
ebirs863225451
HLIrs863225451
Exacrs863225451
Varsomers863225451
Maprs863225451
PheGenIrs863225451
hapmaprs863225451
1000 genomesrs863225451
hgdprs863225451
ensemblrs863225451
gopubmedrs863225451
geneviewrs863225451
scholarrs863225451
googlers863225451
pharmgkbrs863225451
gwascentralrs863225451
openSNPrs863225451
23andMers863225451
23andMe allrs863225451
SNP Nexus

SNPshotrs863225451
SNPdbers863225451
MSV3drs863225451
GWAS Ctlgrs863225451
Max Magnitude0
ClinVar
Risk rs863225451(ACCGCCGC;ACCGCCGC)
Alt rs863225451(ACCGCCGC;ACCGCCGC)
Reference Rs863225451(;)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138664646_138664653dupGCGGCGGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000005130.2,