rs797044547
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797044547(C;C) |
Make rs797044547(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 16 |
Position | 2496461 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs797044547 |
dbSNP (classic) | rs797044547 |
ClinGen | rs797044547 |
ebi | rs797044547 |
HLI | rs797044547 |
Exac | rs797044547 |
Gnomad | rs797044547 |
Varsome | rs797044547 |
LitVar | rs797044547 |
Map | rs797044547 |
PheGenI | rs797044547 |
Biobank | rs797044547 |
1000 genomes | rs797044547 |
hgdp | rs797044547 |
ensembl | rs797044547 |
geneview | rs797044547 |
scholar | rs797044547 |
rs797044547 | |
pharmgkb | rs797044547 |
gwascentral | rs797044547 |
openSNP | rs797044547 |
23andMe | rs797044547 |
SNPshot | rs797044547 |
SNPdbe | rs797044547 |
MSV3d | rs797044547 |
GWAS Ctlg | rs797044547 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044547(C;C) |
Alt | rs797044547(C;C) |
Reference | Rs797044547(T;T) |
Significance | Pathogenic |
Disease | Digitorenocerebral syndrome |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Digitorenocerebral syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.2546462T>C |
CLNSRC | |
CLNACC | RCV000192067.1, |