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rs797044529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044529(-;CCGGCCGCACCCCCGCC)
Make rs797044529(CCGGCCGCACCCCCGCC;CCGGCCGCACCCCCGCC)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position138945865
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs797044529
dbSNP (old)rs797044529
ClinGenrs797044529
ebirs797044529
HLIrs797044529
Exacrs797044529
Gnomadrs797044529
Varsomers797044529
Maprs797044529
PheGenIrs797044529
Biobankrs797044529
1000 genomesrs797044529
hgdprs797044529
ensemblrs797044529
gopubmedrs797044529
geneviewrs797044529
scholarrs797044529
googlers797044529
pharmgkbrs797044529
gwascentralrs797044529
openSNPrs797044529
23andMers797044529
23andMe allrs797044529
SNP Nexus

SNPshotrs797044529
SNPdbers797044529
MSV3drs797044529
GWAS Ctlgrs797044529
Max Magnitude0
ClinVar
Risk rs797044529(CCGGCCGCACCCCCGCC;CCGGCCGCACCCCCGCC)
Alt rs797044529(CCGGCCGCACCCCCGCC;CCGGCCGCACCCCCGCC)
Reference Rs797044529(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664708_138664724dup17
CLNSRC
CLNACC RCV000192037.1,