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rs104893737

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893737(C;T)
Make rs104893737(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position138946566
GeneC3orf72, FOXL2
is asnp
is mentioned by
dbSNPrs104893737
ebirs104893737
HLIrs104893737
Exacrs104893737
Varsomers104893737
Maprs104893737
PheGenIrs104893737
hapmaprs104893737
1000 genomesrs104893737
hgdprs104893737
ensemblrs104893737
gopubmedrs104893737
geneviewrs104893737
scholarrs104893737
googlers104893737
pharmgkbrs104893737
gwascentralrs104893737
openSNPrs104893737
23andMers104893737
23andMe allrs104893737
SNP Nexus

SNPshotrs104893737
SNPdbers104893737
MSV3drs104893737
GWAS Ctlgrs104893737
Max Magnitude0
OMIM605597
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893737(T;T)
Alt rs104893737(T;T)
Reference rs104893737(C;C)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138665408G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005135.2,