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rs121912526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912526(C;C)
Make rs121912526(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688604
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912526
ebirs121912526
HLIrs121912526
Exacrs121912526
Varsomers121912526
Maprs121912526
PheGenIrs121912526
hapmaprs121912526
1000 genomesrs121912526
hgdprs121912526
ensemblrs121912526
gopubmedrs121912526
geneviewrs121912526
scholarrs121912526
googlers121912526
pharmgkbrs121912526
gwascentralrs121912526
openSNPrs121912526
23andMers121912526
23andMe allrs121912526
SNP Nexus

SNPshotrs121912526
SNPdbers121912526
MSV3drs121912526
GWAS Ctlgrs121912526
Max Magnitude0
OMIM152790
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121912526(C;C)
Alt rs121912526(C;C)
Reference rs121912526(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.48915743A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015473.25,