rs765430501
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs765430501(A;A) |
Make rs765430501(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 21 |
Position | 46119806 |
Gene | COL6A2 |
is a | snp |
is | mentioned by |
dbSNP | rs765430501 |
dbSNP (classic) | rs765430501 |
ClinGen | rs765430501 |
ebi | rs765430501 |
HLI | rs765430501 |
Exac | rs765430501 |
Gnomad | rs765430501 |
Varsome | rs765430501 |
LitVar | rs765430501 |
Map | rs765430501 |
PheGenI | rs765430501 |
Biobank | rs765430501 |
1000 genomes | rs765430501 |
hgdp | rs765430501 |
ensembl | rs765430501 |
geneview | rs765430501 |
scholar | rs765430501 |
rs765430501 | |
pharmgkb | rs765430501 |
gwascentral | rs765430501 |
openSNP | rs765430501 |
23andMe | rs765430501 |
SNPshot | rs765430501 |
SNPdbe | rs765430501 |
MSV3d | rs765430501 |
GWAS Ctlg | rs765430501 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765430501(A;A) |
Alt | rs765430501(A;A) |
Reference | Rs765430501(G;G) |
Significance | Probable-Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | COL6A2 |
CLNDBN | not specified not provided |
Reversed | 0 |
HGVS | NC_000021.8:g.47539720G>A |
CLNSRC | |
CLNACC | RCV000299837.1, RCV000490233.1, |