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rs121912523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912523(A;A)
Make rs121912523(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688162
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912523
ebirs121912523
HLIrs121912523
Exacrs121912523
Varsomers121912523
Maprs121912523
PheGenIrs121912523
hapmaprs121912523
1000 genomesrs121912523
hgdprs121912523
ensemblrs121912523
gopubmedrs121912523
geneviewrs121912523
scholarrs121912523
googlers121912523
pharmgkbrs121912523
gwascentralrs121912523
openSNPrs121912523
23andMers121912523
23andMe allrs121912523
SNP Nexus

SNPshotrs121912523
SNPdbers121912523
MSV3drs121912523
GWAS Ctlgrs121912523
Max Magnitude0
OMIM152790
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121912523(A;A)
Alt rs121912523(A;A)
Reference rs121912523(C;C)
Significance Pathogenic
Disease Leydig cell agenesis
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Leydig cell agenesis
Reversed 1
HGVS NC_000002.11:g.48915301G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015469.25,