rs747821285
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs747821285(A;A) |
Make rs747821285(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2496476 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs747821285 |
dbSNP (classic) | rs747821285 |
ClinGen | rs747821285 |
ebi | rs747821285 |
HLI | rs747821285 |
Exac | rs747821285 |
Gnomad | rs747821285 |
Varsome | rs747821285 |
LitVar | rs747821285 |
Map | rs747821285 |
PheGenI | rs747821285 |
Biobank | rs747821285 |
1000 genomes | rs747821285 |
hgdp | rs747821285 |
ensembl | rs747821285 |
geneview | rs747821285 |
scholar | rs747821285 |
rs747821285 | |
pharmgkb | rs747821285 |
gwascentral | rs747821285 |
openSNP | rs747821285 |
23andMe | rs747821285 |
SNPshot | rs747821285 |
SNPdbe | rs747821285 |
MSV3d | rs747821285 |
GWAS Ctlg | rs747821285 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs747821285(A;A) |
Alt | rs747821285(A;A) |
Reference | Rs747821285(G;G) |
Significance | Pathogenic |
Disease | Digitorenocerebral syndrome not provided |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Digitorenocerebral syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.2546477G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000192068.1, RCV000420758.1, |