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rs121908358

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908358(C;T)
Make rs121908358(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position138946428
GeneC3orf72, FOXL2
is asnp
is mentioned by
dbSNPrs121908358
ebirs121908358
HLIrs121908358
Exacrs121908358
Varsomers121908358
Maprs121908358
PheGenIrs121908358
hapmaprs121908358
1000 genomesrs121908358
hgdprs121908358
ensemblrs121908358
gopubmedrs121908358
geneviewrs121908358
scholarrs121908358
googlers121908358
pharmgkbrs121908358
gwascentralrs121908358
openSNPrs121908358
23andMers121908358
23andMe allrs121908358
SNP Nexus

SNPshotrs121908358
SNPdbers121908358
MSV3drs121908358
GWAS Ctlgrs121908358
Max Magnitude0
OMIM605597
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908358(A,T;A,T)
Alt rs121908358(A,T;A,T)
Reference rs121908358(C;C)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1
Variation info
Gene FOXL2 FOXL2NB C3orf72
CLNDBN Blepharophimosis syndrome type 1
Reversed 1
HGVS NC_000003.11:g.138665270G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005140.2,