rs150370918
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common genotype |
Make rs150370918(C;T) |
Make rs150370918(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 219420551 |
Gene | DES |
is a | snp |
is | mentioned by |
dbSNP | rs150370918 |
dbSNP (classic) | rs150370918 |
ClinGen | rs150370918 |
ebi | rs150370918 |
HLI | rs150370918 |
Exac | rs150370918 |
Gnomad | rs150370918 |
Varsome | rs150370918 |
LitVar | rs150370918 |
Map | rs150370918 |
PheGenI | rs150370918 |
Biobank | rs150370918 |
1000 genomes | rs150370918 |
hgdp | rs150370918 |
ensembl | rs150370918 |
geneview | rs150370918 |
scholar | rs150370918 |
rs150370918 | |
pharmgkb | rs150370918 |
gwascentral | rs150370918 |
openSNP | rs150370918 |
23andMe | rs150370918 |
SNPshot | rs150370918 |
SNPdbe | rs150370918 |
MSV3d | rs150370918 |
GWAS Ctlg | rs150370918 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs150370918(T;T) |
Alt | rs150370918(T;T) |
Reference | Rs150370918(C;C) |
Significance | Other |
Disease | not specified Muscular dystrophy Myofibrillar myopathy 1 Cardiovascular phenotype Myofibrillar Myopathy Scapuloperoneal weakness Dilated Cardiomyopathy |
Variation | info |
Gene | DES |
CLNDBN | not specified Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 Cardiovascular phenotype Myofibrillar Myopathy, Dominant Scapuloperoneal weakness Dilated Cardiomyopathy, Dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.220285273C>T |
CLNSRC | |
CLNACC | RCV000037253.7, RCV000204254.3, RCV000242387.1, RCV000295994.1, RCV000345483.1, RCV000350858.1, RCV000381468.1, |