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rs1057516149

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516149(C;C)
Make rs1057516149(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946431
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516149
dbSNP (old)rs1057516149
ClinGenrs1057516149
ebirs1057516149
HLIrs1057516149
Exacrs1057516149
Gnomadrs1057516149
Varsomers1057516149
Maprs1057516149
PheGenIrs1057516149
Biobankrs1057516149
1000 genomesrs1057516149
hgdprs1057516149
ensemblrs1057516149
gopubmedrs1057516149
geneviewrs1057516149
scholarrs1057516149
googlers1057516149
pharmgkbrs1057516149
gwascentralrs1057516149
openSNPrs1057516149
23andMers1057516149
23andMe allrs1057516149
SNPshotrs1057516149
SNPdbers1057516149
MSV3drs1057516149
GWAS Ctlgrs1057516149
Max Magnitude0
ClinVar
Risk rs1057516149(C;C)
Alt rs1057516149(C;C)
Reference Rs1057516149(T;T)
Significance Probable-Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665273A>G
CLNSRC
CLNACC RCV000408873.1,