rs587784267
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587784267(C;T) |
Make rs587784267(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 2670193 |
Gene | PAFAH1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs587784267 |
dbSNP (classic) | rs587784267 |
ClinGen | rs587784267 |
ebi | rs587784267 |
HLI | rs587784267 |
Exac | rs587784267 |
Gnomad | rs587784267 |
Varsome | rs587784267 |
LitVar | rs587784267 |
Map | rs587784267 |
PheGenI | rs587784267 |
Biobank | rs587784267 |
1000 genomes | rs587784267 |
hgdp | rs587784267 |
ensembl | rs587784267 |
geneview | rs587784267 |
scholar | rs587784267 |
rs587784267 | |
pharmgkb | rs587784267 |
gwascentral | rs587784267 |
openSNP | rs587784267 |
23andMe | rs587784267 |
SNPshot | rs587784267 |
SNPdbe | rs587784267 |
MSV3d | rs587784267 |
GWAS Ctlg | rs587784267 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784267(T;T) |
Alt | rs587784267(T;T) |
Reference | Rs587784267(C;C) |
Significance | Pathogenic |
Disease | Lissencephaly 1 not provided |
Variation | info |
Gene | PAFAH1B1 |
CLNDBN | Lissencephaly 1 not provided |
Reversed | 0 |
HGVS | NC_000017.10:g.2573487C>T |
CLNSRC | |
CLNACC | RCV000147038.1, RCV000255123.1, |