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rs797044533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC) 0 common in clinvar
Make rs797044533(-;-)
Make rs797044533(-;GCCTCCGCCGCACCCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138945852
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs797044533
dbSNP (old)rs797044533
ClinGenrs797044533
ebirs797044533
HLIrs797044533
Exacrs797044533
Gnomadrs797044533
Varsomers797044533
Maprs797044533
PheGenIrs797044533
Biobankrs797044533
1000 genomesrs797044533
hgdprs797044533
ensemblrs797044533
gopubmedrs797044533
geneviewrs797044533
scholarrs797044533
googlers797044533
pharmgkbrs797044533
gwascentralrs797044533
openSNPrs797044533
23andMers797044533
23andMe allrs797044533
SNP Nexus

SNPshotrs797044533
SNPdbers797044533
MSV3drs797044533
GWAS Ctlgrs797044533
Max Magnitude0
ClinVar
Risk rs797044533(-;-)
Alt rs797044533(-;-)
Reference Rs797044533(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Significance Pathogenic
Disease Blepharophimosis syndrome type 2 Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis syndrome type 2 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664694_138664710del17
CLNSRC OMIM Allelic Variant
CLNACC RCV000005134.2, RCV000192041.1,