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rs1057516140

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516140(-;-)
Make rs1057516140(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946680
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516140
dbSNP (old)rs1057516140
ClinGenrs1057516140
ebirs1057516140
HLIrs1057516140
Exacrs1057516140
Gnomadrs1057516140
Varsomers1057516140
Maprs1057516140
PheGenIrs1057516140
Biobankrs1057516140
1000 genomesrs1057516140
hgdprs1057516140
ensemblrs1057516140
gopubmedrs1057516140
geneviewrs1057516140
scholarrs1057516140
googlers1057516140
pharmgkbrs1057516140
gwascentralrs1057516140
openSNPrs1057516140
23andMers1057516140
23andMe allrs1057516140
SNPshotrs1057516140
SNPdbers1057516140
MSV3drs1057516140
GWAS Ctlgrs1057516140
Max Magnitude0
ClinVar
Risk rs1057516140(-;-)
Alt rs1057516140(-;-)
Reference Rs1057516140(C;C)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665522delG
CLNSRC
CLNACC RCV000408789.1,