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rs1057516156

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516156(C;T)
Make rs1057516156(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946407
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516156
dbSNP (old)rs1057516156
ClinGenrs1057516156
ebirs1057516156
HLIrs1057516156
Exacrs1057516156
Gnomadrs1057516156
Varsomers1057516156
LitVarrs1057516156
Maprs1057516156
PheGenIrs1057516156
Biobankrs1057516156
1000 genomesrs1057516156
hgdprs1057516156
ensemblrs1057516156
gopubmedrs1057516156
geneviewrs1057516156
scholarrs1057516156
googlers1057516156
pharmgkbrs1057516156
gwascentralrs1057516156
openSNPrs1057516156
23andMers1057516156
23andMe allrs1057516156
SNPshotrs1057516156
SNPdbers1057516156
MSV3drs1057516156
GWAS Ctlgrs1057516156
Max Magnitude0
ClinVar
Risk rs1057516156(T;T)
Alt rs1057516156(T;T)
Reference Rs1057516156(C;C)
Significance Probable-Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665249G>A
CLNSRC
CLNACC RCV000408833.1,