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rs1057516144

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516144(A;C)
Make rs1057516144(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946536
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516144
dbSNP (old)rs1057516144
ClinGenrs1057516144
ebirs1057516144
HLIrs1057516144
Exacrs1057516144
Gnomadrs1057516144
Varsomers1057516144
Maprs1057516144
PheGenIrs1057516144
Biobankrs1057516144
1000 genomesrs1057516144
hgdprs1057516144
ensemblrs1057516144
gopubmedrs1057516144
geneviewrs1057516144
scholarrs1057516144
googlers1057516144
pharmgkbrs1057516144
gwascentralrs1057516144
openSNPrs1057516144
23andMers1057516144
23andMe allrs1057516144
SNPshotrs1057516144
SNPdbers1057516144
MSV3drs1057516144
GWAS Ctlgrs1057516144
Max Magnitude0
ClinVar
Risk rs1057516144(C;C)
Alt rs1057516144(C;C)
Reference Rs1057516144(A;A)
Significance Probable-Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665378T>G
CLNSRC
CLNACC RCV000408860.1,