rs864321676
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864321676(A;A) |
Make rs864321676(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 30720549 |
Gene | TUBB |
is a | snp |
is | mentioned by |
dbSNP | rs864321676 |
dbSNP (classic) | rs864321676 |
ClinGen | rs864321676 |
ebi | rs864321676 |
HLI | rs864321676 |
Exac | rs864321676 |
Gnomad | rs864321676 |
Varsome | rs864321676 |
LitVar | rs864321676 |
Map | rs864321676 |
PheGenI | rs864321676 |
Biobank | rs864321676 |
1000 genomes | rs864321676 |
hgdp | rs864321676 |
ensembl | rs864321676 |
geneview | rs864321676 |
scholar | rs864321676 |
rs864321676 | |
pharmgkb | rs864321676 |
gwascentral | rs864321676 |
openSNP | rs864321676 |
23andMe | rs864321676 |
SNPshot | rs864321676 |
SNPdbe | rs864321676 |
MSV3d | rs864321676 |
GWAS Ctlg | rs864321676 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864321676(A;A) |
Alt | rs864321676(A;A) |
Reference | Rs864321676(C;C) |
Significance | Pathogenic |
Disease | Michelin-tire baby |
Variation | info |
Gene | TUBB |
CLNDBN | Michelin-tire baby |
Reversed | 0 |
HGVS | NC_000006.11:g.30688326C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000203282.2, |