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rs1057516151

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516151(C;G)
Make rs1057516151(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946420
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516151
dbSNP (old)rs1057516151
ClinGenrs1057516151
ebirs1057516151
HLIrs1057516151
Exacrs1057516151
Gnomadrs1057516151
Varsomers1057516151
LitVarrs1057516151
Maprs1057516151
PheGenIrs1057516151
Biobankrs1057516151
1000 genomesrs1057516151
hgdprs1057516151
ensemblrs1057516151
gopubmedrs1057516151
geneviewrs1057516151
scholarrs1057516151
googlers1057516151
pharmgkbrs1057516151
gwascentralrs1057516151
openSNPrs1057516151
23andMers1057516151
23andMe allrs1057516151
SNPshotrs1057516151
SNPdbers1057516151
MSV3drs1057516151
GWAS Ctlgrs1057516151
Max Magnitude0
ClinVar
Risk rs1057516151(G;G)
Alt rs1057516151(G;G)
Reference Rs1057516151(C;C)
Significance Probable-Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665262G>C
CLNSRC
CLNACC RCV000408814.1,