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rs121912530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912530(A;A)
Make rs121912530(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48687923
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912530
ebirs121912530
HLIrs121912530
Exacrs121912530
Varsomers121912530
Maprs121912530
PheGenIrs121912530
hapmaprs121912530
1000 genomesrs121912530
hgdprs121912530
ensemblrs121912530
gopubmedrs121912530
geneviewrs121912530
scholarrs121912530
googlers121912530
pharmgkbrs121912530
gwascentralrs121912530
openSNPrs121912530
23andMers121912530
23andMe allrs121912530
SNP Nexus

SNPshotrs121912530
SNPdbers121912530
MSV3drs121912530
GWAS Ctlgrs121912530
Max Magnitude0
OMIM152790
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912530(A;A)
Alt rs121912530(A;A)
Reference rs121912530(T;T)
Significance Pathogenic
Disease Leydig cell hypoplasia
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Leydig cell hypoplasia, partial
Reversed 1
HGVS NC_000002.11:g.48915062A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015481.21,