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rs1057516139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516139(A;A)
Make rs1057516139(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946708
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516139
dbSNP (old)rs1057516139
ClinGenrs1057516139
ebirs1057516139
HLIrs1057516139
Exacrs1057516139
Gnomadrs1057516139
Varsomers1057516139
LitVarrs1057516139
Maprs1057516139
PheGenIrs1057516139
Biobankrs1057516139
1000 genomesrs1057516139
hgdprs1057516139
ensemblrs1057516139
gopubmedrs1057516139
geneviewrs1057516139
scholarrs1057516139
googlers1057516139
pharmgkbrs1057516139
gwascentralrs1057516139
openSNPrs1057516139
23andMers1057516139
23andMe allrs1057516139
SNPshotrs1057516139
SNPdbers1057516139
MSV3drs1057516139
GWAS Ctlgrs1057516139
Max Magnitude0
ClinVar
Risk rs1057516139(A;A)
Alt rs1057516139(A;A)
Reference Rs1057516139(C;C)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665550G>T
CLNSRC
CLNACC RCV000408892.1,