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rs121912520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912520(C;C)
Make rs121912520(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position48688020
GeneLHCGR, STON1-GTF2A1L
is asnp
is mentioned by
dbSNPrs121912520
ebirs121912520
HLIrs121912520
Exacrs121912520
Varsomers121912520
Maprs121912520
PheGenIrs121912520
hapmaprs121912520
1000 genomesrs121912520
hgdprs121912520
ensemblrs121912520
gopubmedrs121912520
geneviewrs121912520
scholarrs121912520
googlers121912520
pharmgkbrs121912520
gwascentralrs121912520
openSNPrs121912520
23andMers121912520
23andMe allrs121912520
SNP Nexus

SNPshotrs121912520
SNPdbers121912520
MSV3drs121912520
GWAS Ctlgrs121912520
Max Magnitude0
OMIM152790
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912520(C;C)
Alt rs121912520(C;C)
Reference rs121912520(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.48915159C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015465.25, RCV000015466.25,