rs554219567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs554219567(A;A) |
Make rs554219567(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 237364398 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs554219567 |
dbSNP (classic) | rs554219567 |
ClinGen | rs554219567 |
ebi | rs554219567 |
HLI | rs554219567 |
Exac | rs554219567 |
Gnomad | rs554219567 |
Varsome | rs554219567 |
LitVar | rs554219567 |
Map | rs554219567 |
PheGenI | rs554219567 |
Biobank | rs554219567 |
1000 genomes | rs554219567 |
hgdp | rs554219567 |
ensembl | rs554219567 |
geneview | rs554219567 |
scholar | rs554219567 |
rs554219567 | |
pharmgkb | rs554219567 |
gwascentral | rs554219567 |
openSNP | rs554219567 |
23andMe | rs554219567 |
SNPshot | rs554219567 |
SNPdbe | rs554219567 |
MSV3d | rs554219567 |
GWAS Ctlg | rs554219567 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs554219567(A;A) rs554219567(T;T) |
Alt | rs554219567(A;A) rs554219567(T;T) |
Reference | Rs554219567(C;C) |
Significance | Pathogenic |
Disease | Congenital muscular dystrophy |
Variation | info |
Gene | COL6A3 |
CLNDBN | Congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000002.11:g.238273041C>A |
CLNSRC | |
CLNACC | RCV000149953.1, |