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rs121912538

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912538(C;C)
Make rs121912538(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688292
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912538
ebirs121912538
HLIrs121912538
Exacrs121912538
Varsomers121912538
Maprs121912538
PheGenIrs121912538
hapmaprs121912538
1000 genomesrs121912538
hgdprs121912538
ensemblrs121912538
gopubmedrs121912538
geneviewrs121912538
scholarrs121912538
googlers121912538
pharmgkbrs121912538
gwascentralrs121912538
openSNPrs121912538
23andMers121912538
23andMe allrs121912538
SNP Nexus

SNPshotrs121912538
SNPdbers121912538
MSV3drs121912538
GWAS Ctlgrs121912538
Max Magnitude0
OMIM152790
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121912538(C;C)
Alt rs121912538(C;C)
Reference rs121912538(T;T)
Significance Pathogenic
Disease Leydig cell agenesis
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Leydig cell agenesis
Reversed 1
HGVS NC_000002.11:g.48915431A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015491.25,