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rs121912529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912529(A;A)
Make rs121912529(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688737
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912529
ebirs121912529
HLIrs121912529
Exacrs121912529
Varsomers121912529
Maprs121912529
PheGenIrs121912529
hapmaprs121912529
1000 genomesrs121912529
hgdprs121912529
ensemblrs121912529
gopubmedrs121912529
geneviewrs121912529
scholarrs121912529
googlers121912529
pharmgkbrs121912529
gwascentralrs121912529
openSNPrs121912529
23andMers121912529
23andMe allrs121912529
SNP Nexus

SNPshotrs121912529
SNPdbers121912529
MSV3drs121912529
GWAS Ctlgrs121912529
Max Magnitude0
OMIM152790
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121912529(A;A)
Alt rs121912529(A;A)
Reference rs121912529(G;G)
Significance Pathogenic
Disease Leydig cell agenesis Luteinizing hormone resistance
Variation info
Gene STON1-GTF2A1L GTF2A1L LHCGR
CLNDBN Leydig cell agenesis Luteinizing hormone resistance, female
Reversed 1
HGVS NC_000002.11:g.48915876C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015477.25, RCV000015478.25,