rs398122965
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs398122965(C;T) |
Make rs398122965(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 2496872 |
Gene | TBC1D24 |
is a | snp |
is | mentioned by |
dbSNP | rs398122965 |
dbSNP (classic) | rs398122965 |
ClinGen | rs398122965 |
ebi | rs398122965 |
HLI | rs398122965 |
Exac | rs398122965 |
Gnomad | rs398122965 |
Varsome | rs398122965 |
LitVar | rs398122965 |
Map | rs398122965 |
PheGenI | rs398122965 |
Biobank | rs398122965 |
1000 genomes | rs398122965 |
hgdp | rs398122965 |
ensembl | rs398122965 |
geneview | rs398122965 |
scholar | rs398122965 |
rs398122965 | |
pharmgkb | rs398122965 |
gwascentral | rs398122965 |
openSNP | rs398122965 |
23andMe | rs398122965 |
SNPshot | rs398122965 |
SNPdbe | rs398122965 |
MSV3d | rs398122965 |
GWAS Ctlg | rs398122965 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122965(T;T) |
Alt | rs398122965(T;T) |
Reference | Rs398122965(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.2546873C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000076913.4, RCV000189686.1, |