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rs121912525

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912525(A;A)
Make rs121912525(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position48687950
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912525
ebirs121912525
HLIrs121912525
Exacrs121912525
Varsomers121912525
Maprs121912525
PheGenIrs121912525
hapmaprs121912525
1000 genomesrs121912525
hgdprs121912525
ensemblrs121912525
gopubmedrs121912525
geneviewrs121912525
scholarrs121912525
googlers121912525
pharmgkbrs121912525
gwascentralrs121912525
openSNPrs121912525
23andMers121912525
23andMe allrs121912525
SNP Nexus

SNPshotrs121912525
SNPdbers121912525
MSV3drs121912525
GWAS Ctlgrs121912525
Max Magnitude0
OMIM152790
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121912525(A;A)
Alt rs121912525(A;A)
Reference rs121912525(C;C)
Significance Pathogenic
Disease Leydig hypoplasia
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Leydig hypoplasia, type I
Reversed 1
HGVS NC_000002.11:g.48915089G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015472.25,