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rs1057516157

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516157(A;G)
Make rs1057516157(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946404
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516157
dbSNP (old)rs1057516157
ClinGenrs1057516157
ebirs1057516157
HLIrs1057516157
Exacrs1057516157
Gnomadrs1057516157
Varsomers1057516157
Maprs1057516157
PheGenIrs1057516157
Biobankrs1057516157
1000 genomesrs1057516157
hgdprs1057516157
ensemblrs1057516157
gopubmedrs1057516157
geneviewrs1057516157
scholarrs1057516157
googlers1057516157
pharmgkbrs1057516157
gwascentralrs1057516157
openSNPrs1057516157
23andMers1057516157
23andMe allrs1057516157
SNPshotrs1057516157
SNPdbers1057516157
MSV3drs1057516157
GWAS Ctlgrs1057516157
Max Magnitude0
ClinVar
Risk rs1057516157(G;G)
Alt rs1057516157(G;G)
Reference Rs1057516157(A;A)
Significance Probable-Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665246T>C
CLNSRC
CLNACC RCV000408897.1,