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rs104893741

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893741(C;T)
Make rs104893741(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position138946068
GeneC3orf72, FOXL2
is asnp
is mentioned by
dbSNPrs104893741
ebirs104893741
HLIrs104893741
Exacrs104893741
Varsomers104893741
Maprs104893741
PheGenIrs104893741
hapmaprs104893741
1000 genomesrs104893741
hgdprs104893741
ensemblrs104893741
gopubmedrs104893741
geneviewrs104893741
scholarrs104893741
googlers104893741
pharmgkbrs104893741
gwascentralrs104893741
openSNPrs104893741
23andMers104893741
23andMe allrs104893741
SNP Nexus

SNPshotrs104893741
SNPdbers104893741
MSV3drs104893741
GWAS Ctlgrs104893741
Max Magnitude0
OMIM605597
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104893741(T;T)
Alt rs104893741(T;T)
Reference rs104893741(C;C)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1 Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis syndrome type 1 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664910G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005126.2, RCV000192033.1,