rs397514568
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397514568(A;G) |
Make rs397514568(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 3225322 |
Gene | TUBB2B |
is a | snp |
is | mentioned by |
dbSNP | rs397514568 |
dbSNP (classic) | rs397514568 |
ClinGen | rs397514568 |
ebi | rs397514568 |
HLI | rs397514568 |
Exac | rs397514568 |
Gnomad | rs397514568 |
Varsome | rs397514568 |
LitVar | rs397514568 |
Map | rs397514568 |
PheGenI | rs397514568 |
Biobank | rs397514568 |
1000 genomes | rs397514568 |
hgdp | rs397514568 |
ensembl | rs397514568 |
geneview | rs397514568 |
scholar | rs397514568 |
rs397514568 | |
pharmgkb | rs397514568 |
gwascentral | rs397514568 |
openSNP | rs397514568 |
23andMe | rs397514568 |
SNPshot | rs397514568 |
SNPdbe | rs397514568 |
MSV3d | rs397514568 |
GWAS Ctlg | rs397514568 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514568(G;G) |
Alt | rs397514568(G;G) |
Reference | Rs397514568(A;A) |
Significance | Pathogenic |
Disease | Polymicrogyria |
Variation | info |
Gene | TUBB2B |
CLNDBN | Polymicrogyria, asymmetric |
Reversed | 1 |
HGVS | NC_000006.11:g.3225556T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032933.3, |