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rs1057516180

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs1057516180(A;A)
Make rs1057516180(A;CC)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138945866
GeneFOXL2, FOXL2NB, LINC01391
is asnp
is mentioned by
dbSNPrs1057516180
dbSNP (classic)rs1057516180
ClinGenrs1057516180
ebirs1057516180
HLIrs1057516180
Exacrs1057516180
Gnomadrs1057516180
Varsomers1057516180
LitVarrs1057516180
Maprs1057516180
PheGenIrs1057516180
Biobankrs1057516180
1000 genomesrs1057516180
hgdprs1057516180
ensemblrs1057516180
geneviewrs1057516180
scholarrs1057516180
googlers1057516180
pharmgkbrs1057516180
gwascentralrs1057516180
openSNPrs1057516180
23andMers1057516180
23andMe allrs1057516180
SNPshotrs1057516180
SNPdbers1057516180
MSV3drs1057516180
GWAS Ctlgrs1057516180
Max Magnitude0
ClinVar
Risk rs1057516180(A;A)
Alt rs1057516180(A;A)
Reference Rs1057516180(CC;CC)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664708_138664709delGGinsT
CLNSRC
CLNACC RCV000408840.1,