rs5030776
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs5030776(G;G) |
Make rs5030776(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 30233615 |
Gene | FSHB, LOC105376607 |
is a | snp |
is | mentioned by |
dbSNP | rs5030776 |
dbSNP (classic) | rs5030776 |
ClinGen | rs5030776 |
ebi | rs5030776 |
HLI | rs5030776 |
Exac | rs5030776 |
Gnomad | rs5030776 |
Varsome | rs5030776 |
LitVar | rs5030776 |
Map | rs5030776 |
PheGenI | rs5030776 |
Biobank | rs5030776 |
1000 genomes | rs5030776 |
hgdp | rs5030776 |
ensembl | rs5030776 |
geneview | rs5030776 |
scholar | rs5030776 |
rs5030776 | |
pharmgkb | rs5030776 |
gwascentral | rs5030776 |
openSNP | rs5030776 |
23andMe | rs5030776 |
SNPshot | rs5030776 |
SNPdbe | rs5030776 |
MSV3d | rs5030776 |
GWAS Ctlg | rs5030776 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs5030776(G;G) |
Alt | rs5030776(G;G) |
Reference | Rs5030776(T;T) |
Significance | Pathogenic |
Disease | Follicle-stimulating hormone deficiency |
Variation | info |
Gene | FSHB |
CLNDBN | Follicle-stimulating hormone deficiency, isolated |
Reversed | 0 |
HGVS | NC_000011.9:g.30255162T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017628.28, |