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rs121912536

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912536(A;A)
Make rs121912536(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688770
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912536
ebirs121912536
HLIrs121912536
Exacrs121912536
Varsomers121912536
Maprs121912536
PheGenIrs121912536
hapmaprs121912536
1000 genomesrs121912536
hgdprs121912536
ensemblrs121912536
gopubmedrs121912536
geneviewrs121912536
scholarrs121912536
googlers121912536
pharmgkbrs121912536
gwascentralrs121912536
openSNPrs121912536
23andMers121912536
23andMe allrs121912536
SNP Nexus

SNPshotrs121912536
SNPdbers121912536
MSV3drs121912536
GWAS Ctlgrs121912536
Max Magnitude0
OMIM152790
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121912536(A;A)
Alt rs121912536(A;A)
Reference rs121912536(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.48915909A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015490.25,