rs201257588
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201257588(C;T) |
Make rs201257588(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 2496206 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs201257588 |
dbSNP (classic) | rs201257588 |
ClinGen | rs201257588 |
ebi | rs201257588 |
HLI | rs201257588 |
Exac | rs201257588 |
Gnomad | rs201257588 |
Varsome | rs201257588 |
LitVar | rs201257588 |
Map | rs201257588 |
PheGenI | rs201257588 |
Biobank | rs201257588 |
1000 genomes | rs201257588 |
hgdp | rs201257588 |
ensembl | rs201257588 |
geneview | rs201257588 |
scholar | rs201257588 |
rs201257588 | |
pharmgkb | rs201257588 |
gwascentral | rs201257588 |
openSNP | rs201257588 |
23andMe | rs201257588 |
SNPshot | rs201257588 |
SNPdbe | rs201257588 |
MSV3d | rs201257588 |
GWAS Ctlg | rs201257588 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201257588(G;G) rs201257588(T;T) |
Alt | rs201257588(G;G) rs201257588(T;T) |
Reference | Rs201257588(C;C) |
Significance | Pathogenic |
Disease | Digitorenocerebral syndrome not provided |
Variation | info |
Gene | TBC1D24 |
CLNDBN | Digitorenocerebral syndrome not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.2546207C>G; NC_000016.9:g.2546207C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000076915.5, RCV000481616.1, |