rs199870606
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199870606(C;T) |
Make rs199870606(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 71611483 |
Gene | DYSF |
is a | snp |
is | mentioned by |
dbSNP | rs199870606 |
dbSNP (classic) | rs199870606 |
ClinGen | rs199870606 |
ebi | rs199870606 |
HLI | rs199870606 |
Exac | rs199870606 |
Gnomad | rs199870606 |
Varsome | rs199870606 |
LitVar | rs199870606 |
Map | rs199870606 |
PheGenI | rs199870606 |
Biobank | rs199870606 |
1000 genomes | rs199870606 |
hgdp | rs199870606 |
ensembl | rs199870606 |
geneview | rs199870606 |
scholar | rs199870606 |
rs199870606 | |
pharmgkb | rs199870606 |
gwascentral | rs199870606 |
openSNP | rs199870606 |
23andMe | rs199870606 |
SNPshot | rs199870606 |
SNPdbe | rs199870606 |
MSV3d | rs199870606 |
GWAS Ctlg | rs199870606 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199870606(T;T) |
Alt | rs199870606(T;T) |
Reference | Rs199870606(C;C) |
Significance | Pathogenic |
Disease | not specified not provided |
Variation | info |
Gene | DYSF |
CLNDBN | not specified not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.71838613C>T |
CLNSRC | |
CLNACC | RCV000343658.2, RCV000408314.1, |