rs137853195
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs137853195(C;C) |
Make rs137853195(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 3225406 |
Gene | TUBB2B |
is a | snp |
is | mentioned by |
dbSNP | rs137853195 |
dbSNP (classic) | rs137853195 |
ClinGen | rs137853195 |
ebi | rs137853195 |
HLI | rs137853195 |
Exac | rs137853195 |
Gnomad | rs137853195 |
Varsome | rs137853195 |
LitVar | rs137853195 |
Map | rs137853195 |
PheGenI | rs137853195 |
Biobank | rs137853195 |
1000 genomes | rs137853195 |
hgdp | rs137853195 |
ensembl | rs137853195 |
geneview | rs137853195 |
scholar | rs137853195 |
rs137853195 | |
pharmgkb | rs137853195 |
gwascentral | rs137853195 |
openSNP | rs137853195 |
23andMe | rs137853195 |
SNPshot | rs137853195 |
SNPdbe | rs137853195 |
MSV3d | rs137853195 |
GWAS Ctlg | rs137853195 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137853195(C;C) |
Alt | rs137853195(C;C) |
Reference | Rs137853195(T;T) |
Significance | Pathogenic |
Disease | Polymicrogyria |
Variation | info |
Gene | TUBB2B |
CLNDBN | Polymicrogyria, asymmetric |
Reversed | 1 |
HGVS | NC_000006.11:g.3225640A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000455.4, |