rs587783596
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587783596(A;G) |
Make rs587783596(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 10812273 |
Gene | DNM2 |
is a | snp |
is | mentioned by |
dbSNP | rs587783596 |
dbSNP (classic) | rs587783596 |
ClinGen | rs587783596 |
ebi | rs587783596 |
HLI | rs587783596 |
Exac | rs587783596 |
Gnomad | rs587783596 |
Varsome | rs587783596 |
LitVar | rs587783596 |
Map | rs587783596 |
PheGenI | rs587783596 |
Biobank | rs587783596 |
1000 genomes | rs587783596 |
hgdp | rs587783596 |
ensembl | rs587783596 |
geneview | rs587783596 |
scholar | rs587783596 |
rs587783596 | |
pharmgkb | rs587783596 |
gwascentral | rs587783596 |
openSNP | rs587783596 |
23andMe | rs587783596 |
SNPshot | rs587783596 |
SNPdbe | rs587783596 |
MSV3d | rs587783596 |
GWAS Ctlg | rs587783596 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783596(C;C) rs587783596(G;G) |
Alt | rs587783596(C;C) rs587783596(G;G) |
Reference | Rs587783596(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | DNM2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000019.9:g.10922949A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000145904.1, |