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rs121912539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912539(G;T)
Make rs121912539(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48723650
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912539
ebirs121912539
HLIrs121912539
Exacrs121912539
Varsomers121912539
Maprs121912539
PheGenIrs121912539
hapmaprs121912539
1000 genomesrs121912539
hgdprs121912539
ensemblrs121912539
gopubmedrs121912539
geneviewrs121912539
scholarrs121912539
googlers121912539
pharmgkbrs121912539
gwascentralrs121912539
openSNPrs121912539
23andMers121912539
23andMe allrs121912539
SNP Nexus

SNPshotrs121912539
SNPdbers121912539
MSV3drs121912539
GWAS Ctlgrs121912539
GMAF0.0004591
Max Magnitude0
OMIM152790
Desc
Variant0028
Relatedalso
ClinVar
Risk rs121912539(A,T;A,T)
Alt rs121912539(A,T;A,T)
Reference rs121912539(G;G)
Significance Pathogenic
Disease Leydig cell agenesis
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Leydig cell agenesis
Reversed 1
HGVS NC_000002.11:g.48950789C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015492.25,