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rs121912537

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912537(C;C)
Make rs121912537(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688170
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912537
ebirs121912537
HLIrs121912537
Exacrs121912537
Varsomers121912537
Maprs121912537
PheGenIrs121912537
hapmaprs121912537
1000 genomesrs121912537
hgdprs121912537
ensemblrs121912537
gopubmedrs121912537
geneviewrs121912537
scholarrs121912537
googlers121912537
pharmgkbrs121912537
gwascentralrs121912537
openSNPrs121912537
23andMers121912537
23andMe allrs121912537
SNP Nexus

SNPshotrs121912537
SNPdbers121912537
MSV3drs121912537
GWAS Ctlgrs121912537
Max Magnitude0
OMIM152790
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121912537(C;C)
Alt rs121912537(C;C)
Reference rs121912537(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.48915309A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015464.26,