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rs1057516175

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs1057516175(-;-)
Make rs1057516175(-;GG)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138945974
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs1057516175
dbSNP (old)rs1057516175
ClinGenrs1057516175
ebirs1057516175
HLIrs1057516175
Exacrs1057516175
Gnomadrs1057516175
Varsomers1057516175
Maprs1057516175
PheGenIrs1057516175
Biobankrs1057516175
1000 genomesrs1057516175
hgdprs1057516175
ensemblrs1057516175
gopubmedrs1057516175
geneviewrs1057516175
scholarrs1057516175
googlers1057516175
pharmgkbrs1057516175
gwascentralrs1057516175
openSNPrs1057516175
23andMers1057516175
23andMe allrs1057516175
SNPshotrs1057516175
SNPdbers1057516175
MSV3drs1057516175
GWAS Ctlgrs1057516175
Max Magnitude0
ClinVar
Risk rs1057516175(-;-)
Alt rs1057516175(-;-)
Reference Rs1057516175(GG;GG)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664816_138664817delCC
CLNSRC
CLNACC RCV000408856.1,