rs2515569
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs2515569(A;A) |
Make rs2515569(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 6444897 |
Gene | MCPH1 |
is a | snp |
is | mentioned by |
dbSNP | rs2515569 |
dbSNP (classic) | rs2515569 |
ClinGen | rs2515569 |
ebi | rs2515569 |
HLI | rs2515569 |
Exac | rs2515569 |
Gnomad | rs2515569 |
Varsome | rs2515569 |
LitVar | rs2515569 |
Map | rs2515569 |
PheGenI | rs2515569 |
Biobank | rs2515569 |
1000 genomes | rs2515569 |
hgdp | rs2515569 |
ensembl | rs2515569 |
geneview | rs2515569 |
scholar | rs2515569 |
rs2515569 | |
pharmgkb | rs2515569 |
gwascentral | rs2515569 |
openSNP | rs2515569 |
23andMe | rs2515569 |
SNPshot | rs2515569 |
SNPdbe | rs2515569 |
MSV3d | rs2515569 |
GWAS Ctlg | rs2515569 |
GMAF | 0.009183 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs2515569(G;G) |
Alt | Rs2515569(G;G) |
Reference | rs2515569(A;A) |
Significance | Other |
Disease | not specified Primary Microcephaly |
Variation | info |
Gene | MCPH1 |
CLNDBN | not specified Primary Microcephaly, Recessive |
Reversed | 0 |
HGVS | NC_000008.10:g.6302418A>G |
CLNSRC | ClinVar Emory University University of Chicago |
CLNACC | RCV000082198.7, RCV000267656.1, |