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rs1057516165

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516165(-;-)
Make rs1057516165(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946105
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516165
dbSNP (old)rs1057516165
ClinGenrs1057516165
ebirs1057516165
HLIrs1057516165
Exacrs1057516165
Gnomadrs1057516165
Varsomers1057516165
LitVarrs1057516165
Maprs1057516165
PheGenIrs1057516165
Biobankrs1057516165
1000 genomesrs1057516165
hgdprs1057516165
ensemblrs1057516165
gopubmedrs1057516165
geneviewrs1057516165
scholarrs1057516165
googlers1057516165
pharmgkbrs1057516165
gwascentralrs1057516165
openSNPrs1057516165
23andMers1057516165
23andMe allrs1057516165
SNPshotrs1057516165
SNPdbers1057516165
MSV3drs1057516165
GWAS Ctlgrs1057516165
Max Magnitude0
ClinVar
Risk rs1057516165(-;-)
Alt rs1057516165(-;-)
Reference Rs1057516165(A;A)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664947delT
CLNSRC
CLNACC RCV000408781.1,