rs200722892
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200722892(A;A) |
Make rs200722892(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 237378831 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs200722892 |
dbSNP (classic) | rs200722892 |
ClinGen | rs200722892 |
ebi | rs200722892 |
HLI | rs200722892 |
Exac | rs200722892 |
Gnomad | rs200722892 |
Varsome | rs200722892 |
LitVar | rs200722892 |
Map | rs200722892 |
PheGenI | rs200722892 |
Biobank | rs200722892 |
1000 genomes | rs200722892 |
hgdp | rs200722892 |
ensembl | rs200722892 |
geneview | rs200722892 |
scholar | rs200722892 |
rs200722892 | |
pharmgkb | rs200722892 |
gwascentral | rs200722892 |
openSNP | rs200722892 |
23andMe | rs200722892 |
SNPshot | rs200722892 |
SNPdbe | rs200722892 |
MSV3d | rs200722892 |
GWAS Ctlg | rs200722892 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200722892(A;A) rs200722892(C;C) |
Alt | rs200722892(A;A) rs200722892(C;C) |
Reference | Rs200722892(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL6A3 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.238287474G>C |
CLNSRC | |
CLNACC | RCV000171340.1, |