rs117209107
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs117209107(A;A) |
Make rs117209107(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 49530842 |
Gene | DAG1 |
is a | snp |
is | mentioned by |
dbSNP | rs117209107 |
dbSNP (classic) | rs117209107 |
ClinGen | rs117209107 |
ebi | rs117209107 |
HLI | rs117209107 |
Exac | rs117209107 |
Gnomad | rs117209107 |
Varsome | rs117209107 |
LitVar | rs117209107 |
Map | rs117209107 |
PheGenI | rs117209107 |
Biobank | rs117209107 |
1000 genomes | rs117209107 |
hgdp | rs117209107 |
ensembl | rs117209107 |
geneview | rs117209107 |
scholar | rs117209107 |
rs117209107 | |
pharmgkb | rs117209107 |
gwascentral | rs117209107 |
openSNP | rs117209107 |
23andMe | rs117209107 |
SNPshot | rs117209107 |
SNPdbe | rs117209107 |
MSV3d | rs117209107 |
GWAS Ctlg | rs117209107 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs117209107(A;A) |
Alt | rs117209107(A;A) |
Reference | Rs117209107(G;G) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy-dystroglycanopathy not specified |
Variation | info |
Gene | DAG1 |
CLNDBN | Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.49568275G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000190546.3, RCV000335532.1, |