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rs1057516163

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516163(C;G)
Make rs1057516163(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946141
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516163
dbSNP (old)rs1057516163
ClinGenrs1057516163
ebirs1057516163
HLIrs1057516163
Exacrs1057516163
Gnomadrs1057516163
Varsomers1057516163
Maprs1057516163
PheGenIrs1057516163
Biobankrs1057516163
1000 genomesrs1057516163
hgdprs1057516163
ensemblrs1057516163
gopubmedrs1057516163
geneviewrs1057516163
scholarrs1057516163
googlers1057516163
pharmgkbrs1057516163
gwascentralrs1057516163
openSNPrs1057516163
23andMers1057516163
23andMe allrs1057516163
SNPshotrs1057516163
SNPdbers1057516163
MSV3drs1057516163
GWAS Ctlgrs1057516163
Max Magnitude0
ClinVar
Risk rs1057516163(G;G)
Alt rs1057516163(G;G)
Reference Rs1057516163(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.138664983G>C
CLNSRC
CLNACC RCV000408815.1,