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rs104893738

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893738(C;G)
Make rs104893738(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position138945901
GeneC3orf72, FOXL2
is asnp
is mentioned by
dbSNPrs104893738
ebirs104893738
HLIrs104893738
Exacrs104893738
Varsomers104893738
Maprs104893738
PheGenIrs104893738
hapmaprs104893738
1000 genomesrs104893738
hgdprs104893738
ensemblrs104893738
gopubmedrs104893738
geneviewrs104893738
scholarrs104893738
googlers104893738
pharmgkbrs104893738
gwascentralrs104893738
openSNPrs104893738
23andMers104893738
23andMe allrs104893738
SNP Nexus

SNPshotrs104893738
SNPdbers104893738
MSV3drs104893738
GWAS Ctlgrs104893738
Max Magnitude0
OMIM605597
Desc
Variant0009
Relatedalso
ClinVar
Risk rs104893738(G;G)
Alt rs104893738(G;G)
Reference rs104893738(C;C)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1 Blepharophimosis syndrome type 2
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis syndrome type 1 Blepharophimosis syndrome type 2
Reversed 1
HGVS NC_000003.11:g.138664743G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005136.2, RCV000005137.2,