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rs121912540

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912540(A;G)
Make rs121912540(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688106
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912540
ebirs121912540
HLIrs121912540
Exacrs121912540
Varsomers121912540
Maprs121912540
PheGenIrs121912540
hapmaprs121912540
1000 genomesrs121912540
hgdprs121912540
ensemblrs121912540
gopubmedrs121912540
geneviewrs121912540
scholarrs121912540
googlers121912540
pharmgkbrs121912540
gwascentralrs121912540
openSNPrs121912540
23andMers121912540
23andMe allrs121912540
SNP Nexus

SNPshotrs121912540
SNPdbers121912540
MSV3drs121912540
GWAS Ctlgrs121912540
Max Magnitude0
OMIM152790
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121912540(G;G)
Alt rs121912540(G;G)
Reference rs121912540(A;A)
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.48915245T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015493.25,