rs527221
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common on affy axiom data |
Make rs527221(C;C) |
Make rs527221(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 45772718 |
Gene | DMPK |
is a | snp |
is | mentioned by |
dbSNP | rs527221 |
dbSNP (classic) | rs527221 |
ClinGen | rs527221 |
ebi | rs527221 |
HLI | rs527221 |
Exac | rs527221 |
Gnomad | rs527221 |
Varsome | rs527221 |
LitVar | rs527221 |
Map | rs527221 |
PheGenI | rs527221 |
Biobank | rs527221 |
1000 genomes | rs527221 |
hgdp | rs527221 |
ensembl | rs527221 |
geneview | rs527221 |
scholar | rs527221 |
rs527221 | |
pharmgkb | rs527221 |
gwascentral | rs527221 |
openSNP | rs527221 |
23andMe | rs527221 |
SNPshot | rs527221 |
SNPdbe | rs527221 |
MSV3d | rs527221 |
GWAS Ctlg | rs527221 |
GMAF | 0.1217 |
Max Magnitude | 0 |
? | (C;C) (C;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs527221(C;C) |
Alt | rs527221(C;C) |
Reference | Rs527221(G;G) |
Significance | Non-pathogenic |
Disease | not specified |
Variation | info |
Gene | DMPK |
CLNDBN | not specified |
Reversed | 0 |
HGVS | NC_000019.9:g.46275976G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000116883.1, |