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rs121908359

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908359(A;A)
Make rs121908359(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position138946163
GeneFOXL2, FOXL2NB
is asnp
is mentioned by
dbSNPrs121908359
dbSNP (classic)rs121908359
ClinGenrs121908359
ebirs121908359
HLIrs121908359
Exacrs121908359
Gnomadrs121908359
Varsomers121908359
LitVarrs121908359
Maprs121908359
PheGenIrs121908359
Biobankrs121908359
1000 genomesrs121908359
hgdprs121908359
ensemblrs121908359
geneviewrs121908359
scholarrs121908359
googlers121908359
pharmgkbrs121908359
gwascentralrs121908359
openSNPrs121908359
23andMers121908359
SNPshotrs121908359
SNPdbers121908359
MSV3drs121908359
GWAS Ctlgrs121908359
Max Magnitude0
OMIM605597
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121908359(A;A)
Alt rs121908359(A;A)
Reference Rs121908359(G;G)
Significance Pathogenic
Disease Premature ovarian failure 3 Blepharophimosis
Variation info
Gene FOXL2 C3orf72 FOXL2NB
CLNDBN Premature ovarian failure 3 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138665005C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005147.3, RCV000192031.1,