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rs121912528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912528(C;T)
Make rs121912528(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688679
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912528
ebirs121912528
HLIrs121912528
Exacrs121912528
Varsomers121912528
Maprs121912528
PheGenIrs121912528
hapmaprs121912528
1000 genomesrs121912528
hgdprs121912528
ensemblrs121912528
gopubmedrs121912528
geneviewrs121912528
scholarrs121912528
googlers121912528
pharmgkbrs121912528
gwascentralrs121912528
openSNPrs121912528
23andMers121912528
23andMe allrs121912528
SNP Nexus

SNPshotrs121912528
SNPdbers121912528
MSV3drs121912528
GWAS Ctlgrs121912528
Max Magnitude0
OMIM152790
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121912528(T;T)
Alt rs121912528(T;T)
Reference rs121912528(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.48915818G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015476.21,