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rs1057516161

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516161(-;C)
Make rs1057516161(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946146
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516161
dbSNP (old)rs1057516161
ClinGenrs1057516161
ebirs1057516161
HLIrs1057516161
Exacrs1057516161
Gnomadrs1057516161
Varsomers1057516161
Maprs1057516161
PheGenIrs1057516161
Biobankrs1057516161
1000 genomesrs1057516161
hgdprs1057516161
ensemblrs1057516161
gopubmedrs1057516161
geneviewrs1057516161
scholarrs1057516161
googlers1057516161
pharmgkbrs1057516161
gwascentralrs1057516161
openSNPrs1057516161
23andMers1057516161
23andMe allrs1057516161
SNPshotrs1057516161
SNPdbers1057516161
MSV3drs1057516161
GWAS Ctlgrs1057516161
Max Magnitude0
ClinVar
Risk rs1057516161(C;C)
Alt rs1057516161(C;C)
Reference Rs1057516161(-;-)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664989dupG
CLNSRC
CLNACC RCV000408857.1,