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rs121912521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912521(C;T)
Make rs121912521(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688067
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912521
ebirs121912521
HLIrs121912521
Exacrs121912521
Varsomers121912521
Maprs121912521
PheGenIrs121912521
hapmaprs121912521
1000 genomesrs121912521
hgdprs121912521
ensemblrs121912521
gopubmedrs121912521
geneviewrs121912521
scholarrs121912521
googlers121912521
pharmgkbrs121912521
gwascentralrs121912521
openSNPrs121912521
23andMers121912521
23andMe allrs121912521
SNP Nexus

SNPshotrs121912521
SNPdbers121912521
MSV3drs121912521
GWAS Ctlgrs121912521
Max Magnitude0
OMIM152790
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912521(T;T)
Alt rs121912521(T;T)
Reference rs121912521(C;C)
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.48915206G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015467.25,