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rs1057516153

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516153(A;G)
Make rs1057516153(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946412
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516153
dbSNP (old)rs1057516153
ClinGenrs1057516153
ebirs1057516153
HLIrs1057516153
Exacrs1057516153
Gnomadrs1057516153
Varsomers1057516153
LitVarrs1057516153
Maprs1057516153
PheGenIrs1057516153
Biobankrs1057516153
1000 genomesrs1057516153
hgdprs1057516153
ensemblrs1057516153
gopubmedrs1057516153
geneviewrs1057516153
scholarrs1057516153
googlers1057516153
pharmgkbrs1057516153
gwascentralrs1057516153
openSNPrs1057516153
23andMers1057516153
23andMe allrs1057516153
SNPshotrs1057516153
SNPdbers1057516153
MSV3drs1057516153
GWAS Ctlgrs1057516153
Max Magnitude0
ClinVar
Risk rs1057516153(G;G)
Alt rs1057516153(G;G)
Reference Rs1057516153(A;A)
Significance Probable-Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665254T>C
CLNSRC
CLNACC RCV000408824.1,