rs755800734
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 5.2 | Cerebral cavernous angioma associated mutation; variable penetrance |
Make rs755800734(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 45038277 |
Gene | CCM2 |
is a | snp |
is | mentioned by |
dbSNP | rs755800734 |
dbSNP (classic) | rs755800734 |
ClinGen | rs755800734 |
ebi | rs755800734 |
HLI | rs755800734 |
Exac | rs755800734 |
Gnomad | rs755800734 |
Varsome | rs755800734 |
LitVar | rs755800734 |
Map | rs755800734 |
PheGenI | rs755800734 |
Biobank | rs755800734 |
1000 genomes | rs755800734 |
hgdp | rs755800734 |
ensembl | rs755800734 |
geneview | rs755800734 |
scholar | rs755800734 |
rs755800734 | |
pharmgkb | rs755800734 |
gwascentral | rs755800734 |
openSNP | rs755800734 |
23andMe | rs755800734 |
SNPshot | rs755800734 |
SNPdbe | rs755800734 |
MSV3d | rs755800734 |
GWAS Ctlg | rs755800734 |
Max Magnitude | 5.2 |
aka c.55C>T (p.Arg19Ter)