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rs121912522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912522(C;T)
Make rs121912522(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688082
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912522
ebirs121912522
HLIrs121912522
Exacrs121912522
Varsomers121912522
Maprs121912522
PheGenIrs121912522
hapmaprs121912522
1000 genomesrs121912522
hgdprs121912522
ensemblrs121912522
gopubmedrs121912522
geneviewrs121912522
scholarrs121912522
googlers121912522
pharmgkbrs121912522
gwascentralrs121912522
openSNPrs121912522
23andMers121912522
23andMe allrs121912522
SNP Nexus

SNPshotrs121912522
SNPdbers121912522
MSV3drs121912522
GWAS Ctlgrs121912522
Max Magnitude0
OMIM152790
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912522(T;T)
Alt rs121912522(T;T)
Reference rs121912522(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.48915221G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015468.21,