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rs121912533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912533(C;C)
Make rs121912533(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688694
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912533
ebirs121912533
HLIrs121912533
Exacrs121912533
Varsomers121912533
Maprs121912533
PheGenIrs121912533
hapmaprs121912533
1000 genomesrs121912533
hgdprs121912533
ensemblrs121912533
gopubmedrs121912533
geneviewrs121912533
scholarrs121912533
googlers121912533
pharmgkbrs121912533
gwascentralrs121912533
openSNPrs121912533
23andMers121912533
23andMe allrs121912533
SNP Nexus

SNPshotrs121912533
SNPdbers121912533
MSV3drs121912533
GWAS Ctlgrs121912533
Max Magnitude0
OMIM152790
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121912533(C;C)
Alt rs121912533(C;C)
Reference rs121912533(T;T)
Significance Pathogenic
Disease Gonadotropin-independent familial sexual precocity
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Gonadotropin-independent familial sexual precocity
Reversed 1
HGVS NC_000002.11:g.48915833A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015487.25,