rs1057520070
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057520070(-;-) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 45038342 |
Gene | CCM2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057520070 |
dbSNP (classic) | rs1057520070 |
ClinGen | rs1057520070 |
ebi | rs1057520070 |
HLI | rs1057520070 |
Exac | rs1057520070 |
Gnomad | rs1057520070 |
Varsome | rs1057520070 |
LitVar | rs1057520070 |
Map | rs1057520070 |
PheGenI | rs1057520070 |
Biobank | rs1057520070 |
1000 genomes | rs1057520070 |
hgdp | rs1057520070 |
ensembl | rs1057520070 |
geneview | rs1057520070 |
scholar | rs1057520070 |
rs1057520070 | |
pharmgkb | rs1057520070 |
gwascentral | rs1057520070 |
openSNP | rs1057520070 |
23andMe | rs1057520070 |
SNPshot | rs1057520070 |
SNPdbe | rs1057520070 |
MSV3d | rs1057520070 |
GWAS Ctlg | rs1057520070 |
Max Magnitude | 0 |
aka c.183delC (p.Pro62Leufs)
ClinVar | |
---|---|
Risk | rs1057520070(-;-) |
Alt | rs1057520070(-;-) |
Reference | Rs1057520070(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CCM2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.45077941delC |
CLNSRC | |
CLNACC | RCV000442431.1, |