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rs121912532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912532(C;C)
Make rs121912532(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688065
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912532
ebirs121912532
HLIrs121912532
Exacrs121912532
Varsomers121912532
Maprs121912532
PheGenIrs121912532
hapmaprs121912532
1000 genomesrs121912532
hgdprs121912532
ensemblrs121912532
gopubmedrs121912532
geneviewrs121912532
scholarrs121912532
googlers121912532
pharmgkbrs121912532
gwascentralrs121912532
openSNPrs121912532
23andMers121912532
23andMe allrs121912532
SNP Nexus

SNPshotrs121912532
SNPdbers121912532
MSV3drs121912532
GWAS Ctlgrs121912532
Max Magnitude0
OMIM152790
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121912532(A,C,T;A,C,T)
Alt rs121912532(A,C,T;A,C,T)
Reference rs121912532(G;G)
Significance Pathogenic
Disease Gonadotropin-independent familial sexual precocity Leydig cell adenoma
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Gonadotropin-independent familial sexual precocity Leydig cell adenoma, somatic, with male-limited precocious puberty
Reversed 1
HGVS NC_000002.11:g.48915204C>A; NC_000002.11:g.48915204C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030141.1, RCV000015484.4,


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