rs727502825
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs727502825(A;G) |
Make rs727502825(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 46111981 |
Gene | COL6A2 |
is a | snp |
is | mentioned by |
dbSNP | rs727502825 |
dbSNP (classic) | rs727502825 |
ClinGen | rs727502825 |
ebi | rs727502825 |
HLI | rs727502825 |
Exac | rs727502825 |
Gnomad | rs727502825 |
Varsome | rs727502825 |
LitVar | rs727502825 |
Map | rs727502825 |
PheGenI | rs727502825 |
Biobank | rs727502825 |
1000 genomes | rs727502825 |
hgdp | rs727502825 |
ensembl | rs727502825 |
geneview | rs727502825 |
scholar | rs727502825 |
rs727502825 | |
pharmgkb | rs727502825 |
gwascentral | rs727502825 |
openSNP | rs727502825 |
23andMe | rs727502825 |
SNPshot | rs727502825 |
SNPdbe | rs727502825 |
MSV3d | rs727502825 |
GWAS Ctlg | rs727502825 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502825(G;G) |
Alt | rs727502825(G;G) |
Reference | Rs727502825(A;A) |
Significance | Probable-Pathogenic |
Disease | Congenital muscular dystrophy |
Variation | info |
Gene | COL6A2 |
CLNDBN | Congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000021.8:g.47531895A>G |
CLNSRC | |
CLNACC | RCV000149924.1, |