rs121912524
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912524(C;T) |
Make rs121912524(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 48688137 |
Gene | LHCGR, STON1-GTF2A1L |
is a | snp |
is | mentioned by |
dbSNP | rs121912524 |
dbSNP (classic) | rs121912524 |
ClinGen | rs121912524 |
ebi | rs121912524 |
HLI | rs121912524 |
Exac | rs121912524 |
Gnomad | rs121912524 |
Varsome | rs121912524 |
LitVar | rs121912524 |
Map | rs121912524 |
PheGenI | rs121912524 |
Biobank | rs121912524 |
1000 genomes | rs121912524 |
hgdp | rs121912524 |
ensembl | rs121912524 |
geneview | rs121912524 |
scholar | rs121912524 |
rs121912524 | |
pharmgkb | rs121912524 |
gwascentral | rs121912524 |
openSNP | rs121912524 |
23andMe | rs121912524 |
SNPshot | rs121912524 |
SNPdbe | rs121912524 |
MSV3d | rs121912524 |
GWAS Ctlg | rs121912524 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912524(T;T) |
Alt | rs121912524(T;T) |
Reference | Rs121912524(C;C) |
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.48915276G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015470.25, RCV000015471.21, |