rs202024436
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs202024436(C;C) |
Make rs202024436(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 111908969 |
Gene | CRYAB |
is a | snp |
is | mentioned by |
dbSNP | rs202024436 |
dbSNP (classic) | rs202024436 |
ClinGen | rs202024436 |
ebi | rs202024436 |
HLI | rs202024436 |
Exac | rs202024436 |
Gnomad | rs202024436 |
Varsome | rs202024436 |
LitVar | rs202024436 |
Map | rs202024436 |
PheGenI | rs202024436 |
Biobank | rs202024436 |
1000 genomes | rs202024436 |
hgdp | rs202024436 |
ensembl | rs202024436 |
geneview | rs202024436 |
scholar | rs202024436 |
rs202024436 | |
pharmgkb | rs202024436 |
gwascentral | rs202024436 |
openSNP | rs202024436 |
23andMe | rs202024436 |
SNPshot | rs202024436 |
SNPdbe | rs202024436 |
MSV3d | rs202024436 |
GWAS Ctlg | rs202024436 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202024436(C;C) |
Alt | rs202024436(C;C) |
Reference | Rs202024436(T;T) |
Significance | Probable-Pathogenic |
Disease | Myofibrillar myopathy |
Variation | info |
Gene | CRYAB |
CLNDBN | Myofibrillar myopathy |
Reversed | 0 |
HGVS | NC_000011.9:g.111779693T>C |
CLNSRC | ClinVar |
CLNACC | RCV000037214.2, |