rs121918312
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.5 | Myofibrillar Myopathy |
(C;C) | 0 | common in clinvar |
Make rs121918312(C;T) |
Make rs121918312(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 119672373 |
Gene | BAG3 |
is a | snp |
is | mentioned by |
dbSNP | rs121918312 |
dbSNP (classic) | rs121918312 |
ClinGen | rs121918312 |
ebi | rs121918312 |
HLI | rs121918312 |
Exac | rs121918312 |
Gnomad | rs121918312 |
Varsome | rs121918312 |
LitVar | rs121918312 |
Map | rs121918312 |
PheGenI | rs121918312 |
Biobank | rs121918312 |
1000 genomes | rs121918312 |
hgdp | rs121918312 |
ensembl | rs121918312 |
geneview | rs121918312 |
scholar | rs121918312 |
rs121918312 | |
pharmgkb | rs121918312 |
gwascentral | rs121918312 |
openSNP | rs121918312 |
23andMe | rs121918312 |
SNPshot | rs121918312 |
SNPdbe | rs121918312 |
MSV3d | rs121918312 |
GWAS Ctlg | rs121918312 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918312(A;A) rs121918312(T;T) |
Alt | rs121918312(A;A) rs121918312(T;T) |
Reference | Rs121918312(C;C) |
Significance | Pathogenic |
Disease | Myofibrillar myopathy not provided |
Variation | info |
Gene | BAG3 |
CLNDBN | Myofibrillar myopathy, BAG3-related not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.121431885C>A; NC_000010.10:g.121431885C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000144684.2, RCV000006347.3, RCV000183317.2, |