rs763078071
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs763078071(C;G) |
Make rs763078071(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 236762512 |
Gene | ACTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs763078071 |
dbSNP (classic) | rs763078071 |
ClinGen | rs763078071 |
ebi | rs763078071 |
HLI | rs763078071 |
Exac | rs763078071 |
Gnomad | rs763078071 |
Varsome | rs763078071 |
LitVar | rs763078071 |
Map | rs763078071 |
PheGenI | rs763078071 |
Biobank | rs763078071 |
1000 genomes | rs763078071 |
hgdp | rs763078071 |
ensembl | rs763078071 |
geneview | rs763078071 |
scholar | rs763078071 |
rs763078071 | |
pharmgkb | rs763078071 |
gwascentral | rs763078071 |
openSNP | rs763078071 |
23andMe | rs763078071 |
SNPshot | rs763078071 |
SNPdbe | rs763078071 |
MSV3d | rs763078071 |
GWAS Ctlg | rs763078071 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763078071(G;G) rs763078071(T;T) |
Alt | rs763078071(G;G) rs763078071(T;T) |
Reference | Rs763078071(C;C) |
Significance | Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | ACTN2 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.236925812C>T |
CLNSRC | |
CLNACC | RCV000183277.2, RCV000223773.1, |