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rs1057516176

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516176(-;A)
Make rs1057516176(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138945945
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs1057516176
dbSNP (classic)rs1057516176
ClinGenrs1057516176
ebirs1057516176
HLIrs1057516176
Exacrs1057516176
Gnomadrs1057516176
Varsomers1057516176
LitVarrs1057516176
Maprs1057516176
PheGenIrs1057516176
Biobankrs1057516176
1000 genomesrs1057516176
hgdprs1057516176
ensemblrs1057516176
geneviewrs1057516176
scholarrs1057516176
googlers1057516176
pharmgkbrs1057516176
gwascentralrs1057516176
openSNPrs1057516176
23andMers1057516176
23andMe allrs1057516176
SNPshotrs1057516176
SNPdbers1057516176
MSV3drs1057516176
GWAS Ctlgrs1057516176
Max Magnitude0
ClinVar
Risk rs1057516176(A;A)
Alt rs1057516176(A;A)
Reference Rs1057516176(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664788dupT
CLNSRC
CLNACC RCV000408754.1,