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rs121912517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912517(A;A)
Make rs121912517(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position49016563
GeneLHB
is asnp
is mentioned by
dbSNPrs121912517
dbSNP (classic)rs121912517
ClinGenrs121912517
ebirs121912517
HLIrs121912517
Exacrs121912517
Gnomadrs121912517
Varsomers121912517
LitVarrs121912517
Maprs121912517
PheGenIrs121912517
Biobankrs121912517
1000 genomesrs121912517
hgdprs121912517
ensemblrs121912517
geneviewrs121912517
scholarrs121912517
googlers121912517
pharmgkbrs121912517
gwascentralrs121912517
openSNPrs121912517
23andMers121912517
SNPshotrs121912517
SNPdbers121912517
MSV3drs121912517
GWAS Ctlgrs121912517
Max Magnitude0
OMIM152780
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912517(A;A)
Alt rs121912517(A;A)
Reference Rs121912517(G;G)
Significance Pathogenic
Disease Isolated lutropin deficiency
Variation info
Gene LHB
CLNDBN Isolated lutropin deficiency
Reversed 1
HGVS NC_000019.9:g.49519820C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015497.27,