rs193303104
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193303104(G;T) |
Make rs193303104(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 144399863 |
Gene | NOBOX |
is a | snp |
is | mentioned by |
dbSNP | rs193303104 |
dbSNP (classic) | rs193303104 |
ClinGen | rs193303104 |
ebi | rs193303104 |
HLI | rs193303104 |
Exac | rs193303104 |
Gnomad | rs193303104 |
Varsome | rs193303104 |
LitVar | rs193303104 |
Map | rs193303104 |
PheGenI | rs193303104 |
Biobank | rs193303104 |
1000 genomes | rs193303104 |
hgdp | rs193303104 |
ensembl | rs193303104 |
geneview | rs193303104 |
scholar | rs193303104 |
rs193303104 | |
pharmgkb | rs193303104 |
gwascentral | rs193303104 |
openSNP | rs193303104 |
23andMe | rs193303104 |
SNPshot | rs193303104 |
SNPdbe | rs193303104 |
MSV3d | rs193303104 |
GWAS Ctlg | rs193303104 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193303104(T;T) |
Alt | rs193303104(T;T) |
Reference | Rs193303104(G;G) |
Significance | Pathogenic |
Disease | Premature ovarian failure 5 |
Variation | info |
Gene | NOBOX |
CLNDBN | Premature ovarian failure 5 |
Reversed | 1 |
HGVS | NC_000007.13:g.144096956C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000154193.3, |