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rs1057516177

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516177(-;-)
Make rs1057516177(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138945919
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs1057516177
dbSNP (old)rs1057516177
ClinGenrs1057516177
ebirs1057516177
HLIrs1057516177
Exacrs1057516177
Gnomadrs1057516177
Varsomers1057516177
LitVarrs1057516177
Maprs1057516177
PheGenIrs1057516177
Biobankrs1057516177
1000 genomesrs1057516177
hgdprs1057516177
ensemblrs1057516177
gopubmedrs1057516177
geneviewrs1057516177
scholarrs1057516177
googlers1057516177
pharmgkbrs1057516177
gwascentralrs1057516177
openSNPrs1057516177
23andMers1057516177
23andMe allrs1057516177
SNPshotrs1057516177
SNPdbers1057516177
MSV3drs1057516177
GWAS Ctlgrs1057516177
Max Magnitude0
ClinVar
Risk rs1057516177(-;-)
Alt rs1057516177(-;-)
Reference Rs1057516177(C;C)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664761delG
CLNSRC
CLNACC RCV000408862.1,