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rs1057516142

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516142(A;A)
Make rs1057516142(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946550
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516142
dbSNP (old)rs1057516142
ClinGenrs1057516142
ebirs1057516142
HLIrs1057516142
Exacrs1057516142
Gnomadrs1057516142
Varsomers1057516142
Maprs1057516142
PheGenIrs1057516142
Biobankrs1057516142
1000 genomesrs1057516142
hgdprs1057516142
ensemblrs1057516142
gopubmedrs1057516142
geneviewrs1057516142
scholarrs1057516142
googlers1057516142
pharmgkbrs1057516142
gwascentralrs1057516142
openSNPrs1057516142
23andMers1057516142
23andMe allrs1057516142
SNPshotrs1057516142
SNPdbers1057516142
MSV3drs1057516142
GWAS Ctlgrs1057516142
Max Magnitude0
ClinVar
Risk rs1057516142(A;A)
Alt rs1057516142(A;A)
Reference Rs1057516142(C;C)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665392G>T
CLNSRC
CLNACC RCV000408770.1,