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rs1057516159

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516159(A;G)
Make rs1057516159(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946383
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1057516159
dbSNP (old)rs1057516159
ClinGenrs1057516159
ebirs1057516159
HLIrs1057516159
Exacrs1057516159
Gnomadrs1057516159
Varsomers1057516159
Maprs1057516159
PheGenIrs1057516159
Biobankrs1057516159
1000 genomesrs1057516159
hgdprs1057516159
ensemblrs1057516159
gopubmedrs1057516159
geneviewrs1057516159
scholarrs1057516159
googlers1057516159
pharmgkbrs1057516159
gwascentralrs1057516159
openSNPrs1057516159
23andMers1057516159
23andMe allrs1057516159
SNPshotrs1057516159
SNPdbers1057516159
MSV3drs1057516159
GWAS Ctlgrs1057516159
Max Magnitude0
ClinVar
Risk rs1057516159(G;G)
Alt rs1057516159(G;G)
Reference Rs1057516159(A;A)
Significance Probable-Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665225T>C
CLNSRC
CLNACC RCV000408861.1,