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rs797044532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044532(-;GCCTCCGCCGCACCCCC)
Make rs797044532(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138945851
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs797044532
dbSNP (old)rs797044532
ClinGenrs797044532
ebirs797044532
HLIrs797044532
Exacrs797044532
Gnomadrs797044532
Varsomers797044532
Maprs797044532
PheGenIrs797044532
Biobankrs797044532
1000 genomesrs797044532
hgdprs797044532
ensemblrs797044532
gopubmedrs797044532
geneviewrs797044532
scholarrs797044532
googlers797044532
pharmgkbrs797044532
gwascentralrs797044532
openSNPrs797044532
23andMers797044532
23andMe allrs797044532
SNP Nexus

SNPshotrs797044532
SNPdbers797044532
MSV3drs797044532
GWAS Ctlgrs797044532
Max Magnitude0
ClinVar
Risk rs797044532(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Alt rs797044532(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Reference Rs797044532(-;-)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1 Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis syndrome type 1 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664694_138664710dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000005142.3, RCV000192040.1,