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rs121912518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912518(A;G)
Make rs121912518(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688064
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912518
ebirs121912518
HLIrs121912518
Exacrs121912518
Varsomers121912518
Maprs121912518
PheGenIrs121912518
hapmaprs121912518
1000 genomesrs121912518
hgdprs121912518
ensemblrs121912518
gopubmedrs121912518
geneviewrs121912518
scholarrs121912518
googlers121912518
pharmgkbrs121912518
gwascentralrs121912518
openSNPrs121912518
23andMers121912518
23andMe allrs121912518
SNP Nexus

SNPshotrs121912518
SNPdbers121912518
MSV3drs121912518
GWAS Ctlgrs121912518
Max Magnitude0
OMIM152790
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912518(G;G)
Alt rs121912518(G;G)
Reference rs121912518(A;A)
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.48915203T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015461.28,