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rs121912534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912534(C;T)
Make rs121912534(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688094
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912534
ebirs121912534
HLIrs121912534
Exacrs121912534
Varsomers121912534
Maprs121912534
PheGenIrs121912534
hapmaprs121912534
1000 genomesrs121912534
hgdprs121912534
ensemblrs121912534
gopubmedrs121912534
geneviewrs121912534
scholarrs121912534
googlers121912534
pharmgkbrs121912534
gwascentralrs121912534
openSNPrs121912534
23andMers121912534
23andMe allrs121912534
SNP Nexus

SNPshotrs121912534
SNPdbers121912534
MSV3drs121912534
GWAS Ctlgrs121912534
Max Magnitude0
OMIM152790
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121912534(T;T)
Alt rs121912534(T;T)
Reference rs121912534(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.48915233G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015488.25,