rs369607332
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs369607332(A;A) |
Make rs369607332(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 71570679 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs369607332 |
dbSNP (classic) | rs369607332 |
ClinGen | rs369607332 |
ebi | rs369607332 |
HLI | rs369607332 |
Exac | rs369607332 |
Gnomad | rs369607332 |
Varsome | rs369607332 |
LitVar | rs369607332 |
Map | rs369607332 |
PheGenI | rs369607332 |
Biobank | rs369607332 |
1000 genomes | rs369607332 |
hgdp | rs369607332 |
ensembl | rs369607332 |
geneview | rs369607332 |
scholar | rs369607332 |
rs369607332 | |
pharmgkb | rs369607332 |
gwascentral | rs369607332 |
openSNP | rs369607332 |
23andMe | rs369607332 |
SNPshot | rs369607332 |
SNPdbe | rs369607332 |
MSV3d | rs369607332 |
GWAS Ctlg | rs369607332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs369607332(A;A) rs369607332(T;T) |
Alt | rs369607332(A;A) rs369607332(T;T) |
Reference | Rs369607332(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy not provided |
Variation | info |
Gene | DYSF |
CLNDBN | Limb-girdle muscular dystrophy, type 2B not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.71797809C>T |
CLNSRC | Quest Diagnostics |
CLNACC | RCV000201098.1, RCV000255805.1, |