rs202218890
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202218890(C;T) |
Make rs202218890(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 71569884 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs202218890 |
dbSNP (classic) | rs202218890 |
ClinGen | rs202218890 |
ebi | rs202218890 |
HLI | rs202218890 |
Exac | rs202218890 |
Gnomad | rs202218890 |
Varsome | rs202218890 |
LitVar | rs202218890 |
Map | rs202218890 |
PheGenI | rs202218890 |
Biobank | rs202218890 |
1000 genomes | rs202218890 |
hgdp | rs202218890 |
ensembl | rs202218890 |
geneview | rs202218890 |
scholar | rs202218890 |
rs202218890 | |
pharmgkb | rs202218890 |
gwascentral | rs202218890 |
openSNP | rs202218890 |
23andMe | rs202218890 |
SNPshot | rs202218890 |
SNPdbe | rs202218890 |
MSV3d | rs202218890 |
GWAS Ctlg | rs202218890 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202218890(T;T) |
Alt | rs202218890(T;T) |
Reference | Rs202218890(C;C) |
Significance | Pathogenic |
Disease | Limb-girdle muscular dystrophy |
Variation | info |
Gene | DYSF |
CLNDBN | Limb-girdle muscular dystrophy, type 2B |
Reversed | 0 |
HGVS | NC_000002.11:g.71797014C>T |
CLNSRC | |
CLNACC | RCV000262612.2, |