rs201854898
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201854898(A;A) |
Make rs201854898(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 21 |
Position | 46132386 |
Gene | COL6A2 |
is a | snp |
is | mentioned by |
dbSNP | rs201854898 |
dbSNP (classic) | rs201854898 |
ClinGen | rs201854898 |
ebi | rs201854898 |
HLI | rs201854898 |
Exac | rs201854898 |
Gnomad | rs201854898 |
Varsome | rs201854898 |
LitVar | rs201854898 |
Map | rs201854898 |
PheGenI | rs201854898 |
Biobank | rs201854898 |
1000 genomes | rs201854898 |
hgdp | rs201854898 |
ensembl | rs201854898 |
geneview | rs201854898 |
scholar | rs201854898 |
rs201854898 | |
pharmgkb | rs201854898 |
gwascentral | rs201854898 |
openSNP | rs201854898 |
23andMe | rs201854898 |
SNPshot | rs201854898 |
SNPdbe | rs201854898 |
MSV3d | rs201854898 |
GWAS Ctlg | rs201854898 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201854898(A;A) rs201854898(C;C) |
Alt | rs201854898(A;A) rs201854898(C;C) |
Reference | Rs201854898(G;G) |
Significance | Probable-Pathogenic |
Disease | not provided not specified |
Variation | info |
Gene | COL6A2 |
CLNDBN | not provided not specified |
Reversed | 0 |
HGVS | NC_000021.8:g.47552300G>C |
CLNSRC | |
CLNACC | RCV000254951.1, RCV000287235.1, |