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rs1057516178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516178(-;G)
Make rs1057516178(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138945895
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs1057516178
dbSNP (classic)rs1057516178
ClinGenrs1057516178
ebirs1057516178
HLIrs1057516178
Exacrs1057516178
Gnomadrs1057516178
Varsomers1057516178
LitVarrs1057516178
Maprs1057516178
PheGenIrs1057516178
Biobankrs1057516178
1000 genomesrs1057516178
hgdprs1057516178
ensemblrs1057516178
geneviewrs1057516178
scholarrs1057516178
googlers1057516178
pharmgkbrs1057516178
gwascentralrs1057516178
openSNPrs1057516178
23andMers1057516178
SNPshotrs1057516178
SNPdbers1057516178
MSV3drs1057516178
GWAS Ctlgrs1057516178
Max Magnitude0
ClinVar
Risk rs1057516178(G;G)
Alt rs1057516178(G;G)
Reference Rs1057516178(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664738dupC
CLNSRC
CLNACC RCV000408820.1,