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rs5030776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs5030776(G;G)
Make rs5030776(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position30233615
GeneFSHB, LOC105376607
is asnp
is mentioned by
dbSNPrs5030776
dbSNP (classic)rs5030776
ClinGenrs5030776
ebirs5030776
HLIrs5030776
Exacrs5030776
Gnomadrs5030776
Varsomers5030776
LitVarrs5030776
Maprs5030776
PheGenIrs5030776
Biobankrs5030776
1000 genomesrs5030776
hgdprs5030776
ensemblrs5030776
geneviewrs5030776
scholarrs5030776
googlers5030776
pharmgkbrs5030776
gwascentralrs5030776
openSNPrs5030776
23andMers5030776
SNPshotrs5030776
SNPdbers5030776
MSV3drs5030776
GWAS Ctlgrs5030776
Max Magnitude0
OMIM136530
Desc
Variant0002
Relatedalso


ClinVar
Risk rs5030776(G;G)
Alt rs5030776(G;G)
Reference Rs5030776(T;T)
Significance Pathogenic
Disease Follicle-stimulating hormone deficiency
Variation info
Gene FSHB
CLNDBN Follicle-stimulating hormone deficiency, isolated
Reversed 0
HGVS NC_000011.9:g.30255162T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017628.28,