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rs1057516164

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516164(A;A)
Make rs1057516164(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946111
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516164
dbSNP (old)rs1057516164
ClinGenrs1057516164
ebirs1057516164
HLIrs1057516164
Exacrs1057516164
Gnomadrs1057516164
Varsomers1057516164
Maprs1057516164
PheGenIrs1057516164
Biobankrs1057516164
1000 genomesrs1057516164
hgdprs1057516164
ensemblrs1057516164
gopubmedrs1057516164
geneviewrs1057516164
scholarrs1057516164
googlers1057516164
pharmgkbrs1057516164
gwascentralrs1057516164
openSNPrs1057516164
23andMers1057516164
23andMe allrs1057516164
SNPshotrs1057516164
SNPdbers1057516164
MSV3drs1057516164
GWAS Ctlgrs1057516164
Max Magnitude0
ClinVar
Risk rs1057516164(A;A)
Alt rs1057516164(A;A)
Reference Rs1057516164(G;G)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664953C>T
CLNSRC
CLNACC RCV000408864.1,