rs753719501
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs753719501(A;A) |
Make rs753719501(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 49185142 |
Gene | TUBA1A |
is a | snp |
is | mentioned by |
dbSNP | rs753719501 |
dbSNP (classic) | rs753719501 |
ClinGen | rs753719501 |
ebi | rs753719501 |
HLI | rs753719501 |
Exac | rs753719501 |
Gnomad | rs753719501 |
Varsome | rs753719501 |
LitVar | rs753719501 |
Map | rs753719501 |
PheGenI | rs753719501 |
Biobank | rs753719501 |
1000 genomes | rs753719501 |
hgdp | rs753719501 |
ensembl | rs753719501 |
geneview | rs753719501 |
scholar | rs753719501 |
rs753719501 | |
pharmgkb | rs753719501 |
gwascentral | rs753719501 |
openSNP | rs753719501 |
23andMe | rs753719501 |
SNPshot | rs753719501 |
SNPdbe | rs753719501 |
MSV3d | rs753719501 |
GWAS Ctlg | rs753719501 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs753719501(A;A) rs753719501(T;T) |
Alt | rs753719501(A;A) rs753719501(T;T) |
Reference | Rs753719501(G;G) |
Significance | Pathogenic |
Disease | Lissencephaly 3 |
Variation | info |
Gene | TUBA1A |
CLNDBN | Lissencephaly 3 |
Reversed | 0 |
HGVS | NC_000012.11:g.49578925G>T |
CLNSRC | Baylor College of Medicine |
CLNACC | RCV000191138.1, |