rs181969865
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs181969865(C;T) |
Make rs181969865(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 17 |
Position | 82924992 |
Gene | TBCD |
is a | snp |
is | mentioned by |
dbSNP | rs181969865 |
dbSNP (classic) | rs181969865 |
ClinGen | rs181969865 |
ebi | rs181969865 |
HLI | rs181969865 |
Exac | rs181969865 |
Gnomad | rs181969865 |
Varsome | rs181969865 |
LitVar | rs181969865 |
Map | rs181969865 |
PheGenI | rs181969865 |
Biobank | rs181969865 |
1000 genomes | rs181969865 |
hgdp | rs181969865 |
ensembl | rs181969865 |
geneview | rs181969865 |
scholar | rs181969865 |
rs181969865 | |
pharmgkb | rs181969865 |
gwascentral | rs181969865 |
openSNP | rs181969865 |
23andMe | rs181969865 |
SNPshot | rs181969865 |
SNPdbe | rs181969865 |
MSV3d | rs181969865 |
GWAS Ctlg | rs181969865 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs181969865(T;T) |
Alt | rs181969865(T;T) |
Reference | Rs181969865(C;C) |
Significance | Pathogenic |
Disease | Encephalopathy |
Variation | info |
Gene | TBCD |
CLNDBN | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum |
Reversed | 0 |
HGVS | NC_000017.10:g.80882868C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000258905.1, |