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rs1057516184

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516184(-;-)
Make rs1057516184(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138945741
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs1057516184
dbSNP (classic)rs1057516184
ClinGenrs1057516184
ebirs1057516184
HLIrs1057516184
Exacrs1057516184
Gnomadrs1057516184
Varsomers1057516184
LitVarrs1057516184
Maprs1057516184
PheGenIrs1057516184
Biobankrs1057516184
1000 genomesrs1057516184
hgdprs1057516184
ensemblrs1057516184
geneviewrs1057516184
scholarrs1057516184
googlers1057516184
pharmgkbrs1057516184
gwascentralrs1057516184
openSNPrs1057516184
23andMers1057516184
23andMe allrs1057516184
SNPshotrs1057516184
SNPdbers1057516184
MSV3drs1057516184
GWAS Ctlgrs1057516184
Max Magnitude0
ClinVar
Risk rs1057516184(-;-)
Alt rs1057516184(-;-)
Reference Rs1057516184(G;G)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664583delC
CLNSRC
CLNACC RCV000408893.1,