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rs1057516168

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516168(A;G)
Make rs1057516168(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946079
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516168
dbSNP (old)rs1057516168
ClinGenrs1057516168
ebirs1057516168
HLIrs1057516168
Exacrs1057516168
Gnomadrs1057516168
Varsomers1057516168
Maprs1057516168
PheGenIrs1057516168
Biobankrs1057516168
1000 genomesrs1057516168
hgdprs1057516168
ensemblrs1057516168
gopubmedrs1057516168
geneviewrs1057516168
scholarrs1057516168
googlers1057516168
pharmgkbrs1057516168
gwascentralrs1057516168
openSNPrs1057516168
23andMers1057516168
23andMe allrs1057516168
SNPshotrs1057516168
SNPdbers1057516168
MSV3drs1057516168
GWAS Ctlgrs1057516168
Max Magnitude0
ClinVar
Risk rs1057516168(G;G)
Alt rs1057516168(G;G)
Reference Rs1057516168(A;A)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664921T>C
CLNSRC
CLNACC RCV000408786.1,