rs727502829
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727502829(C;T) |
Make rs727502829(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 21 |
Position | 46121562 |
Gene | COL6A2 |
is a | snp |
is | mentioned by |
dbSNP | rs727502829 |
dbSNP (classic) | rs727502829 |
ClinGen | rs727502829 |
ebi | rs727502829 |
HLI | rs727502829 |
Exac | rs727502829 |
Gnomad | rs727502829 |
Varsome | rs727502829 |
LitVar | rs727502829 |
Map | rs727502829 |
PheGenI | rs727502829 |
Biobank | rs727502829 |
1000 genomes | rs727502829 |
hgdp | rs727502829 |
ensembl | rs727502829 |
geneview | rs727502829 |
scholar | rs727502829 |
rs727502829 | |
pharmgkb | rs727502829 |
gwascentral | rs727502829 |
openSNP | rs727502829 |
23andMe | rs727502829 |
SNPshot | rs727502829 |
SNPdbe | rs727502829 |
MSV3d | rs727502829 |
GWAS Ctlg | rs727502829 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502829(T;T) |
Alt | rs727502829(T;T) |
Reference | Rs727502829(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified |
Variation | info |
Gene | COL6A2 |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000021.8:g.47541476C>T |
CLNSRC | |
CLNACC | RCV000149928.2, |