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rs121918123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918123(C;C)
Make rs121918123(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57012845
GeneTAC3
is asnp
is mentioned by
dbSNPrs121918123
ebirs121918123
HLIrs121918123
Exacrs121918123
Varsomers121918123
Maprs121918123
PheGenIrs121918123
hapmaprs121918123
1000 genomesrs121918123
hgdprs121918123
ensemblrs121918123
gopubmedrs121918123
geneviewrs121918123
scholarrs121918123
googlers121918123
pharmgkbrs121918123
gwascentralrs121918123
openSNPrs121918123
23andMers121918123
23andMe allrs121918123
SNP Nexus

SNPshotrs121918123
SNPdbers121918123
MSV3drs121918123
GWAS Ctlgrs121918123
Max Magnitude0
OMIM162330
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918123(C;C)
Alt rs121918123(C;C)
Reference rs121918123(T;T)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 10 without anosmia not provided
Variation info
Gene TAC3
CLNDBN Hypogonadotropic hypogonadism 10 without anosmia not provided
Reversed 1
HGVS NC_000012.11:g.57406629A>G
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000030899.25, RCV000059795.1,


[PMID 19079066OA-icon.png] TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.