rs8040502
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs8040502(A;G) |
Make rs8040502(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 40622992 |
Gene | CASC5, KNL1 |
is a | snp |
is | mentioned by |
dbSNP | rs8040502 |
dbSNP (classic) | rs8040502 |
ClinGen | rs8040502 |
ebi | rs8040502 |
HLI | rs8040502 |
Exac | rs8040502 |
Gnomad | rs8040502 |
Varsome | rs8040502 |
LitVar | rs8040502 |
Map | rs8040502 |
PheGenI | rs8040502 |
Biobank | rs8040502 |
1000 genomes | rs8040502 |
hgdp | rs8040502 |
ensembl | rs8040502 |
geneview | rs8040502 |
scholar | rs8040502 |
rs8040502 | |
pharmgkb | rs8040502 |
gwascentral | rs8040502 |
openSNP | rs8040502 |
23andMe | rs8040502 |
SNPshot | rs8040502 |
SNPdbe | rs8040502 |
MSV3d | rs8040502 |
GWAS Ctlg | rs8040502 |
GMAF | 0.2994 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs8040502(G;G) |
Alt | rs8040502(G;G) |
Reference | Rs8040502(A;A) |
Significance | Non-pathogenic |
Disease | Primary Microcephaly |
Variation | info |
Gene | KNL1 |
CLNDBN | Primary Microcephaly, Recessive |
Reversed | 0 |
HGVS | NC_000015.9:g.40915190A>G |
CLNSRC | |
CLNACC | RCV000320581.1, |