rs201947677
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201947677(C;T) |
Make rs201947677(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 144399847 |
Gene | NOBOX |
is a | snp |
is | mentioned by |
dbSNP | rs201947677 |
dbSNP (classic) | rs201947677 |
ClinGen | rs201947677 |
ebi | rs201947677 |
HLI | rs201947677 |
Exac | rs201947677 |
Gnomad | rs201947677 |
Varsome | rs201947677 |
LitVar | rs201947677 |
Map | rs201947677 |
PheGenI | rs201947677 |
Biobank | rs201947677 |
1000 genomes | rs201947677 |
hgdp | rs201947677 |
ensembl | rs201947677 |
geneview | rs201947677 |
scholar | rs201947677 |
rs201947677 | |
pharmgkb | rs201947677 |
gwascentral | rs201947677 |
openSNP | rs201947677 |
23andMe | rs201947677 |
SNPshot | rs201947677 |
SNPdbe | rs201947677 |
MSV3d | rs201947677 |
GWAS Ctlg | rs201947677 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201947677(G;G) rs201947677(T;T) |
Alt | rs201947677(G;G) rs201947677(T;T) |
Reference | Rs201947677(C;C) |
Significance | Pathogenic |
Disease | Premature ovarian failure 5 |
Variation | info |
Gene | NOBOX |
CLNDBN | Premature ovarian failure 5 |
Reversed | 0 |
HGVS | NC_000007.13:g.144096940C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000001138.4, |