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rs121912531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912531(A;C)
Make rs121912531(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688173
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912531
ebirs121912531
HLIrs121912531
Exacrs121912531
Varsomers121912531
Maprs121912531
PheGenIrs121912531
hapmaprs121912531
1000 genomesrs121912531
hgdprs121912531
ensemblrs121912531
gopubmedrs121912531
geneviewrs121912531
scholarrs121912531
googlers121912531
pharmgkbrs121912531
gwascentralrs121912531
openSNPrs121912531
23andMers121912531
23andMe allrs121912531
SNP Nexus

SNPshotrs121912531
SNPdbers121912531
MSV3drs121912531
GWAS Ctlgrs121912531
Max Magnitude0
OMIM152790
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121912531(C;C)
Alt rs121912531(C;C)
Reference rs121912531(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.48915312T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015483.26,