Have questions? Visit https://www.reddit.com/r/SNPedia

rs121912527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121912527(C;C)
Make rs121912527(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position48723689
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912527
ebirs121912527
HLIrs121912527
Exacrs121912527
Varsomers121912527
Maprs121912527
PheGenIrs121912527
hapmaprs121912527
1000 genomesrs121912527
hgdprs121912527
ensemblrs121912527
gopubmedrs121912527
geneviewrs121912527
scholarrs121912527
googlers121912527
pharmgkbrs121912527
gwascentralrs121912527
openSNPrs121912527
23andMers121912527
23andMe allrs121912527
SNP Nexus

SNPshotrs121912527
SNPdbers121912527
MSV3drs121912527
GWAS Ctlgrs121912527
Max Magnitude0
OMIM152790
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912527(C;C)
Alt rs121912527(C;C)
Reference rs121912527(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.48950828A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015475.25,