rs794729668
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs794729668(A;G) |
Make rs794729668(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 49818457 |
Gene | FUZ, MED25 |
is a | snp |
is | mentioned by |
dbSNP | rs794729668 |
dbSNP (classic) | rs794729668 |
ClinGen | rs794729668 |
ebi | rs794729668 |
HLI | rs794729668 |
Exac | rs794729668 |
Gnomad | rs794729668 |
Varsome | rs794729668 |
LitVar | rs794729668 |
Map | rs794729668 |
PheGenI | rs794729668 |
Biobank | rs794729668 |
1000 genomes | rs794729668 |
hgdp | rs794729668 |
ensembl | rs794729668 |
geneview | rs794729668 |
scholar | rs794729668 |
rs794729668 | |
pharmgkb | rs794729668 |
gwascentral | rs794729668 |
openSNP | rs794729668 |
23andMe | rs794729668 |
SNPshot | rs794729668 |
SNPdbe | rs794729668 |
MSV3d | rs794729668 |
GWAS Ctlg | rs794729668 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729668(G;G) |
Alt | rs794729668(G;G) |
Reference | Rs794729668(A;A) |
Significance | Pathogenic |
Disease | Basel-Vanagaite-Smirin-Yosef syndrome |
Variation | info |
Gene | MED25 |
CLNDBN | Basel-Vanagaite-Smirin-Yosef syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.50321714A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000185605.3, |