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rs1057516145

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516145(A;A)
Make rs1057516145(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946528
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516145
dbSNP (old)rs1057516145
ClinGenrs1057516145
ebirs1057516145
HLIrs1057516145
Exacrs1057516145
Gnomadrs1057516145
Varsomers1057516145
Maprs1057516145
PheGenIrs1057516145
Biobankrs1057516145
1000 genomesrs1057516145
hgdprs1057516145
ensemblrs1057516145
gopubmedrs1057516145
geneviewrs1057516145
scholarrs1057516145
googlers1057516145
pharmgkbrs1057516145
gwascentralrs1057516145
openSNPrs1057516145
23andMers1057516145
23andMe allrs1057516145
SNPshotrs1057516145
SNPdbers1057516145
MSV3drs1057516145
GWAS Ctlgrs1057516145
Max Magnitude0
ClinVar
Risk rs1057516145(A;A)
Alt rs1057516145(A;A)
Reference Rs1057516145(G;G)
Significance Probable-Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665370C>T
CLNSRC
CLNACC RCV000408759.1,