rs149278319
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149278319(C;T) |
Make rs149278319(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 157367416 |
Gene | DNAJB6 |
is a | snp |
is | mentioned by |
dbSNP | rs149278319 |
dbSNP (classic) | rs149278319 |
ClinGen | rs149278319 |
ebi | rs149278319 |
HLI | rs149278319 |
Exac | rs149278319 |
Gnomad | rs149278319 |
Varsome | rs149278319 |
LitVar | rs149278319 |
Map | rs149278319 |
PheGenI | rs149278319 |
Biobank | rs149278319 |
1000 genomes | rs149278319 |
hgdp | rs149278319 |
ensembl | rs149278319 |
geneview | rs149278319 |
scholar | rs149278319 |
rs149278319 | |
pharmgkb | rs149278319 |
gwascentral | rs149278319 |
openSNP | rs149278319 |
23andMe | rs149278319 |
SNPshot | rs149278319 |
SNPdbe | rs149278319 |
MSV3d | rs149278319 |
GWAS Ctlg | rs149278319 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149278319(A;A) rs149278319(G;G) rs149278319(T;T) |
Alt | rs149278319(A;A) rs149278319(G;G) rs149278319(T;T) |
Reference | Rs149278319(C;C) |
Significance | Other |
Disease | Limb-girdle muscular dystrophy not provided Limb-Girdle Muscular Dystrophy Myofibrillar Myopathy not specified |
Variation | info |
Gene | DNAJB6 |
CLNDBN | Limb-girdle muscular dystrophy, type 1E not provided Limb-Girdle Muscular Dystrophy, Dominant Myofibrillar Myopathy, Dominant not specified |
Reversed | 0 |
HGVS | NC_000007.13:g.157160110C>A; NC_000007.13:g.157160110C>G; NC_000007.13:g.157160110C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024241.4, RCV000414366.1, RCV000024240.5, RCV000286930.1, RCV000341832.1, RCV000400694.2, |