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rs121918125

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918125(C;T)
Make rs121918125(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position103591515
GeneTACR3
is asnp
is mentioned by
dbSNPrs121918125
ebirs121918125
HLIrs121918125
Exacrs121918125
Varsomers121918125
Maprs121918125
PheGenIrs121918125
hapmaprs121918125
1000 genomesrs121918125
hgdprs121918125
ensemblrs121918125
gopubmedrs121918125
geneviewrs121918125
scholarrs121918125
googlers121918125
pharmgkbrs121918125
gwascentralrs121918125
openSNPrs121918125
23andMers121918125
23andMe allrs121918125
SNP Nexus

SNPshotrs121918125
SNPdbers121918125
MSV3drs121918125
GWAS Ctlgrs121918125
Max Magnitude0
OMIM162332
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918125(T;T)
Alt rs121918125(T;T)
Reference rs121918125(C;C)
Significance Pathogenic
Disease Hypogonadotropic hypogonadism 11 with or without anosmia not provided
Variation info
Gene TACR3
CLNDBN Hypogonadotropic hypogonadism 11 with or without anosmia not provided
Reversed 1
HGVS NC_000004.11:g.104512672G>A
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000030898.25, RCV000059783.1,


[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.