rs121912517
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121912517(A;A) |
Make rs121912517(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 49016563 |
Gene | LHB |
is a | snp |
is | mentioned by |
dbSNP | rs121912517 |
dbSNP (classic) | rs121912517 |
ClinGen | rs121912517 |
ebi | rs121912517 |
HLI | rs121912517 |
Exac | rs121912517 |
Gnomad | rs121912517 |
Varsome | rs121912517 |
LitVar | rs121912517 |
Map | rs121912517 |
PheGenI | rs121912517 |
Biobank | rs121912517 |
1000 genomes | rs121912517 |
hgdp | rs121912517 |
ensembl | rs121912517 |
geneview | rs121912517 |
scholar | rs121912517 |
rs121912517 | |
pharmgkb | rs121912517 |
gwascentral | rs121912517 |
openSNP | rs121912517 |
23andMe | rs121912517 |
SNPshot | rs121912517 |
SNPdbe | rs121912517 |
MSV3d | rs121912517 |
GWAS Ctlg | rs121912517 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912517(A;A) |
Alt | rs121912517(A;A) |
Reference | Rs121912517(G;G) |
Significance | Pathogenic |
Disease | Isolated lutropin deficiency |
Variation | info |
Gene | LHB |
CLNDBN | Isolated lutropin deficiency |
Reversed | 1 |
HGVS | NC_000019.9:g.49519820C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015497.27, |