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rs1057516181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516181(-;C)
Make rs1057516181(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138945830
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs1057516181
dbSNP (classic)rs1057516181
ClinGenrs1057516181
ebirs1057516181
HLIrs1057516181
Exacrs1057516181
Gnomadrs1057516181
Varsomers1057516181
LitVarrs1057516181
Maprs1057516181
PheGenIrs1057516181
Biobankrs1057516181
1000 genomesrs1057516181
hgdprs1057516181
ensemblrs1057516181
geneviewrs1057516181
scholarrs1057516181
googlers1057516181
pharmgkbrs1057516181
gwascentralrs1057516181
openSNPrs1057516181
23andMers1057516181
SNPshotrs1057516181
SNPdbers1057516181
MSV3drs1057516181
GWAS Ctlgrs1057516181
Max Magnitude0
ClinVar
Risk rs1057516181(C;C)
Alt rs1057516181(C;C)
Reference Rs1057516181(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664673dupG
CLNSRC
CLNACC RCV000408867.1,