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rs121918124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918124(A;A)
Make rs121918124(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position103719398
GeneTACR3
is asnp
is mentioned by
dbSNPrs121918124
ebirs121918124
HLIrs121918124
Exacrs121918124
Varsomers121918124
Maprs121918124
PheGenIrs121918124
hapmaprs121918124
1000 genomesrs121918124
hgdprs121918124
ensemblrs121918124
gopubmedrs121918124
geneviewrs121918124
scholarrs121918124
googlers121918124
pharmgkbrs121918124
gwascentralrs121918124
openSNPrs121918124
23andMers121918124
23andMe allrs121918124
SNP Nexus

SNPshotrs121918124
SNPdbers121918124
MSV3drs121918124
GWAS Ctlgrs121918124
Max Magnitude0
OMIM162332
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918124(A,C;A,C)
Alt rs121918124(A,C;A,C)
Reference rs121918124(G;G)
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.104640555C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000030897.25, RCV000059784.1,


[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.