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rs1057516158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516158(-;-)
Make rs1057516158(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946385
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516158
dbSNP (old)rs1057516158
ClinGenrs1057516158
ebirs1057516158
HLIrs1057516158
Exacrs1057516158
Gnomadrs1057516158
Varsomers1057516158
Maprs1057516158
PheGenIrs1057516158
Biobankrs1057516158
1000 genomesrs1057516158
hgdprs1057516158
ensemblrs1057516158
gopubmedrs1057516158
geneviewrs1057516158
scholarrs1057516158
googlers1057516158
pharmgkbrs1057516158
gwascentralrs1057516158
openSNPrs1057516158
23andMers1057516158
23andMe allrs1057516158
SNPshotrs1057516158
SNPdbers1057516158
MSV3drs1057516158
GWAS Ctlgrs1057516158
Max Magnitude0
ClinVar
Risk rs1057516158(-;-)
Alt rs1057516158(-;-)
Reference Rs1057516158(T;T)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665227delA
CLNSRC
CLNACC RCV000408795.1,