rs797046071
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797046071(A;A) |
Make rs797046071(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 49185261 |
Gene | TUBA1A |
is a | snp |
is | mentioned by |
dbSNP | rs797046071 |
dbSNP (classic) | rs797046071 |
ClinGen | rs797046071 |
ebi | rs797046071 |
HLI | rs797046071 |
Exac | rs797046071 |
Gnomad | rs797046071 |
Varsome | rs797046071 |
LitVar | rs797046071 |
Map | rs797046071 |
PheGenI | rs797046071 |
Biobank | rs797046071 |
1000 genomes | rs797046071 |
hgdp | rs797046071 |
ensembl | rs797046071 |
geneview | rs797046071 |
scholar | rs797046071 |
rs797046071 | |
pharmgkb | rs797046071 |
gwascentral | rs797046071 |
openSNP | rs797046071 |
23andMe | rs797046071 |
SNPshot | rs797046071 |
SNPdbe | rs797046071 |
MSV3d | rs797046071 |
GWAS Ctlg | rs797046071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797046071(A;A) |
Alt | rs797046071(A;A) |
Reference | Rs797046071(G;G) |
Significance | Probable-Pathogenic |
Disease | Lissencephaly 3 |
Variation | info |
Gene | TUBA1A |
CLNDBN | Lissencephaly 3 |
Reversed | 1 |
HGVS | NC_000012.11:g.49579044C>T |
CLNSRC | |
CLNACC | RCV000194532.1, |