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rs1057516150

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516150(A;A)
Make rs1057516150(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946430
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516150
dbSNP (classic)rs1057516150
ClinGenrs1057516150
ebirs1057516150
HLIrs1057516150
Exacrs1057516150
Gnomadrs1057516150
Varsomers1057516150
LitVarrs1057516150
Maprs1057516150
PheGenIrs1057516150
Biobankrs1057516150
1000 genomesrs1057516150
hgdprs1057516150
ensemblrs1057516150
geneviewrs1057516150
scholarrs1057516150
googlers1057516150
pharmgkbrs1057516150
gwascentralrs1057516150
openSNPrs1057516150
23andMers1057516150
23andMe allrs1057516150
SNPshotrs1057516150
SNPdbers1057516150
MSV3drs1057516150
GWAS Ctlgrs1057516150
Max Magnitude0
ClinVar
Risk rs1057516150(A;A)
Alt rs1057516150(A;A)
Reference Rs1057516150(G;G)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665272C>T
CLNSRC
CLNACC RCV000408774.1,