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rs1057516185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516185(-;-)
Make rs1057516185(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138945712
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs1057516185
dbSNP (old)rs1057516185
ClinGenrs1057516185
ebirs1057516185
HLIrs1057516185
Exacrs1057516185
Gnomadrs1057516185
Varsomers1057516185
LitVarrs1057516185
Maprs1057516185
PheGenIrs1057516185
Biobankrs1057516185
1000 genomesrs1057516185
hgdprs1057516185
ensemblrs1057516185
gopubmedrs1057516185
geneviewrs1057516185
scholarrs1057516185
googlers1057516185
pharmgkbrs1057516185
gwascentralrs1057516185
openSNPrs1057516185
23andMers1057516185
23andMe allrs1057516185
SNPshotrs1057516185
SNPdbers1057516185
MSV3drs1057516185
GWAS Ctlgrs1057516185
Max Magnitude0
ClinVar
Risk rs1057516185(-;-)
Alt rs1057516185(-;-)
Reference Rs1057516185(C;C)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664554delG
CLNSRC
CLNACC RCV000408792.1,