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rs1060499717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060499717(A;T)
Make rs1060499717(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position138946233
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs1060499717
dbSNP (old)rs1060499717
ClinGenrs1060499717
ebirs1060499717
HLIrs1060499717
Exacrs1060499717
Gnomadrs1060499717
Varsomers1060499717
Maprs1060499717
PheGenIrs1060499717
Biobankrs1060499717
1000 genomesrs1060499717
hgdprs1060499717
ensemblrs1060499717
gopubmedrs1060499717
geneviewrs1060499717
scholarrs1060499717
googlers1060499717
pharmgkbrs1060499717
gwascentralrs1060499717
openSNPrs1060499717
23andMers1060499717
23andMe allrs1060499717
SNPshotrs1060499717
SNPdbers1060499717
MSV3drs1060499717
GWAS Ctlgrs1060499717
Max Magnitude0
ClinVar
Risk rs1060499717(T;T)
Alt rs1060499717(T;T)
Reference Rs1060499717(A;A)
Significance Pathogenic
Disease Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665075T>A
CLNSRC
CLNACC RCV000449613.1,