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rs797044531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044531(-;-)
Make rs797044531(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138945869
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs797044531
ClinGenrs797044531
ebirs797044531
HLIrs797044531
Exacrs797044531
Varsomers797044531
Maprs797044531
PheGenIrs797044531
hapmaprs797044531
1000 genomesrs797044531
hgdprs797044531
ensemblrs797044531
gopubmedrs797044531
geneviewrs797044531
scholarrs797044531
googlers797044531
pharmgkbrs797044531
gwascentralrs797044531
openSNPrs797044531
23andMers797044531
23andMe allrs797044531
SNP Nexus

SNPshotrs797044531
SNPdbers797044531
MSV3drs797044531
GWAS Ctlgrs797044531
Max Magnitude0
ClinVar
Risk rs797044531(-;-)
Alt rs797044531(-;-)
Reference Rs797044531(C;C)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664711delG
CLNSRC
CLNACC RCV000192039.1,