rs797044548
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044548(G;T) |
Make rs797044548(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2498253 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs797044548 |
dbSNP (classic) | rs797044548 |
ClinGen | rs797044548 |
ebi | rs797044548 |
HLI | rs797044548 |
Exac | rs797044548 |
Gnomad | rs797044548 |
Varsome | rs797044548 |
LitVar | rs797044548 |
Map | rs797044548 |
PheGenI | rs797044548 |
Biobank | rs797044548 |
1000 genomes | rs797044548 |
hgdp | rs797044548 |
ensembl | rs797044548 |
geneview | rs797044548 |
scholar | rs797044548 |
rs797044548 | |
pharmgkb | rs797044548 |
gwascentral | rs797044548 |
openSNP | rs797044548 |
23andMe | rs797044548 |
SNPshot | rs797044548 |
SNPdbe | rs797044548 |
MSV3d | rs797044548 |
GWAS Ctlg | rs797044548 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044548(T;T) |
Alt | rs797044548(T;T) |
Reference | Rs797044548(G;G) |
Significance | Pathogenic |
Disease | Digitorenocerebral syndrome |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Digitorenocerebral syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.2548254G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000192069.1, |