rs587784491
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587784491(A;A) |
Make rs587784491(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 49186832 |
Gene | TUBA1A |
is a | snp |
is | mentioned by |
dbSNP | rs587784491 |
dbSNP (classic) | rs587784491 |
ClinGen | rs587784491 |
ebi | rs587784491 |
HLI | rs587784491 |
Exac | rs587784491 |
Gnomad | rs587784491 |
Varsome | rs587784491 |
LitVar | rs587784491 |
Map | rs587784491 |
PheGenI | rs587784491 |
Biobank | rs587784491 |
1000 genomes | rs587784491 |
hgdp | rs587784491 |
ensembl | rs587784491 |
geneview | rs587784491 |
scholar | rs587784491 |
rs587784491 | |
pharmgkb | rs587784491 |
gwascentral | rs587784491 |
openSNP | rs587784491 |
23andMe | rs587784491 |
SNPshot | rs587784491 |
SNPdbe | rs587784491 |
MSV3d | rs587784491 |
GWAS Ctlg | rs587784491 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784491(A;A) |
Alt | rs587784491(A;A) |
Reference | Rs587784491(G;G) |
Significance | Pathogenic |
Disease | Lissencephaly 3 Inborn genetic diseases not provided |
Variation | info |
Gene | TUBA1A |
CLNDBN | Lissencephaly 3 Inborn genetic diseases not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.49580615C>T |
CLNSRC | |
CLNACC | RCV000147815.1, RCV000190671.1, RCV000494655.1, |