rs587777034
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587777034(A;A) |
Make rs587777034(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 62361319 |
Gene | KIF2A |
is a | snp |
is | mentioned by |
dbSNP | rs587777034 |
dbSNP (classic) | rs587777034 |
ClinGen | rs587777034 |
ebi | rs587777034 |
HLI | rs587777034 |
Exac | rs587777034 |
Gnomad | rs587777034 |
Varsome | rs587777034 |
LitVar | rs587777034 |
Map | rs587777034 |
PheGenI | rs587777034 |
Biobank | rs587777034 |
1000 genomes | rs587777034 |
hgdp | rs587777034 |
ensembl | rs587777034 |
geneview | rs587777034 |
scholar | rs587777034 |
rs587777034 | |
pharmgkb | rs587777034 |
gwascentral | rs587777034 |
openSNP | rs587777034 |
23andMe | rs587777034 |
SNPshot | rs587777034 |
SNPdbe | rs587777034 |
MSV3d | rs587777034 |
GWAS Ctlg | rs587777034 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777034(A;A) |
Alt | rs587777034(A;A) |
Reference | Rs587777034(G;G) |
Significance | Pathogenic |
Disease | Cortical dysplasia |
Variation | info |
Gene | KIF2A |
CLNDBN | Cortical dysplasia, complex, with other brain malformations 3 |
Reversed | 0 |
HGVS | NC_000005.9:g.61657146G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000055624.2, |