rs113828929
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113828929(A;A) |
Make rs113828929(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 21 |
Position | 46126238 |
Gene | COL6A2 |
is a | snp |
is | mentioned by |
dbSNP | rs113828929 |
dbSNP (classic) | rs113828929 |
ClinGen | rs113828929 |
ebi | rs113828929 |
HLI | rs113828929 |
Exac | rs113828929 |
Gnomad | rs113828929 |
Varsome | rs113828929 |
LitVar | rs113828929 |
Map | rs113828929 |
PheGenI | rs113828929 |
Biobank | rs113828929 |
1000 genomes | rs113828929 |
hgdp | rs113828929 |
ensembl | rs113828929 |
geneview | rs113828929 |
scholar | rs113828929 |
rs113828929 | |
pharmgkb | rs113828929 |
gwascentral | rs113828929 |
openSNP | rs113828929 |
23andMe | rs113828929 |
SNPshot | rs113828929 |
SNPdbe | rs113828929 |
MSV3d | rs113828929 |
GWAS Ctlg | rs113828929 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113828929(A;A) |
Alt | rs113828929(A;A) |
Reference | Rs113828929(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL6A2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.47546152G>A |
CLNSRC | |
CLNACC | RCV000332897.1, |