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rs121912535

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912535(G;G)
Make rs121912535(G;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688427
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912535
ebirs121912535
HLIrs121912535
Exacrs121912535
Varsomers121912535
Maprs121912535
PheGenIrs121912535
hapmaprs121912535
1000 genomesrs121912535
hgdprs121912535
ensemblrs121912535
gopubmedrs121912535
geneviewrs121912535
scholarrs121912535
googlers121912535
pharmgkbrs121912535
gwascentralrs121912535
openSNPrs121912535
23andMers121912535
23andMe allrs121912535
SNP Nexus

SNPshotrs121912535
SNPdbers121912535
MSV3drs121912535
GWAS Ctlgrs121912535
Max Magnitude0
OMIM152790
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121912535(G;G)
Alt rs121912535(G;G)
Reference rs121912535(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.48915566A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015489.25,