Have questions? Visit https://www.reddit.com/r/SNPedia

rs797044528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044528(-;C)
Make rs797044528(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138945918
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs797044528
dbSNP (old)rs797044528
ClinGenrs797044528
ebirs797044528
HLIrs797044528
Exacrs797044528
Gnomadrs797044528
Varsomers797044528
Maprs797044528
PheGenIrs797044528
Biobankrs797044528
1000 genomesrs797044528
hgdprs797044528
ensemblrs797044528
gopubmedrs797044528
geneviewrs797044528
scholarrs797044528
googlers797044528
pharmgkbrs797044528
gwascentralrs797044528
openSNPrs797044528
23andMers797044528
23andMe allrs797044528
SNP Nexus

SNPshotrs797044528
SNPdbers797044528
MSV3drs797044528
GWAS Ctlgrs797044528
Max Magnitude0
ClinVar
Risk rs797044528(C;C)
Alt rs797044528(C;C)
Reference Rs797044528(-;-)
Significance Pathogenic
Disease Blepharophimosis syndrome type 2 Blepharophimosis syndrome type 1 Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis syndrome type 2 Blepharophimosis syndrome type 1 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664761dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005132.2, RCV000005133.2, RCV000192036.1,