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rs121912524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912524(C;T)
Make rs121912524(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688137
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912524
ebirs121912524
HLIrs121912524
Exacrs121912524
Varsomers121912524
Maprs121912524
PheGenIrs121912524
hapmaprs121912524
1000 genomesrs121912524
hgdprs121912524
ensemblrs121912524
gopubmedrs121912524
geneviewrs121912524
scholarrs121912524
googlers121912524
pharmgkbrs121912524
gwascentralrs121912524
openSNPrs121912524
23andMers121912524
23andMe allrs121912524
SNP Nexus

SNPshotrs121912524
SNPdbers121912524
MSV3drs121912524
GWAS Ctlgrs121912524
Max Magnitude0
OMIM152790
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121912524(T;T)
Alt rs121912524(T;T)
Reference rs121912524(C;C)
Significance Pathogenic
Disease Leydig cell agenesis Luteinizing hormone resistance
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Leydig cell agenesis Luteinizing hormone resistance, female
Reversed 1
HGVS NC_000002.11:g.48915276G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015470.25, RCV000015471.21,