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rs1057516167

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516167(A;A)
Make rs1057516167(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946091
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516167
dbSNP (old)rs1057516167
ClinGenrs1057516167
ebirs1057516167
HLIrs1057516167
Exacrs1057516167
Gnomadrs1057516167
Varsomers1057516167
LitVarrs1057516167
Maprs1057516167
PheGenIrs1057516167
Biobankrs1057516167
1000 genomesrs1057516167
hgdprs1057516167
ensemblrs1057516167
gopubmedrs1057516167
geneviewrs1057516167
scholarrs1057516167
googlers1057516167
pharmgkbrs1057516167
gwascentralrs1057516167
openSNPrs1057516167
23andMers1057516167
23andMe allrs1057516167
SNPshotrs1057516167
SNPdbers1057516167
MSV3drs1057516167
GWAS Ctlgrs1057516167
Max Magnitude0
ClinVar
Risk rs1057516167(A;A)
Alt rs1057516167(A;A)
Reference Rs1057516167(C;C)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664933G>T
CLNSRC
CLNACC RCV000408870.1,