rs121918555
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121918555(C;T) |
Make rs121918555(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 59024379 |
Gene | TUBB1 |
is a | snp |
is | mentioned by |
dbSNP | rs121918555 |
dbSNP (classic) | rs121918555 |
ClinGen | rs121918555 |
ebi | rs121918555 |
HLI | rs121918555 |
Exac | rs121918555 |
Gnomad | rs121918555 |
Varsome | rs121918555 |
LitVar | rs121918555 |
Map | rs121918555 |
PheGenI | rs121918555 |
Biobank | rs121918555 |
1000 genomes | rs121918555 |
hgdp | rs121918555 |
ensembl | rs121918555 |
geneview | rs121918555 |
scholar | rs121918555 |
rs121918555 | |
pharmgkb | rs121918555 |
gwascentral | rs121918555 |
openSNP | rs121918555 |
23andMe | rs121918555 |
SNPshot | rs121918555 |
SNPdbe | rs121918555 |
MSV3d | rs121918555 |
GWAS Ctlg | rs121918555 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918555(T;T) |
Alt | rs121918555(T;T) |
Reference | Rs121918555(C;C) |
Significance | Pathogenic |
Disease | MACROTHROMBOCYTOPENIA |
Variation | info |
Gene | TUBB1 |
CLNDBN | MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED |
Reversed | 0 |
HGVS | NC_000020.10:g.57599434C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000453.2, |