rs121908333
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908333(A;A) |
Make rs121908333(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 86687163 |
Gene | LDB3 |
is a | snp |
is | mentioned by |
dbSNP | rs121908333 |
dbSNP (classic) | rs121908333 |
ClinGen | rs121908333 |
ebi | rs121908333 |
HLI | rs121908333 |
Exac | rs121908333 |
Gnomad | rs121908333 |
Varsome | rs121908333 |
LitVar | rs121908333 |
Map | rs121908333 |
PheGenI | rs121908333 |
Biobank | rs121908333 |
1000 genomes | rs121908333 |
hgdp | rs121908333 |
ensembl | rs121908333 |
geneview | rs121908333 |
scholar | rs121908333 |
rs121908333 | |
pharmgkb | rs121908333 |
gwascentral | rs121908333 |
openSNP | rs121908333 |
23andMe | rs121908333 |
SNPshot | rs121908333 |
SNPdbe | rs121908333 |
MSV3d | rs121908333 |
GWAS Ctlg | rs121908333 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908333(A;A) |
Alt | rs121908333(A;A) |
Reference | Rs121908333(G;G) |
Significance | Pathogenic |
Disease | Myofibrillar myopathy not provided |
Variation | info |
Gene | LDB3 |
CLNDBN | Myofibrillar myopathy, ZASP-related not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.88446920G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004992.3, RCV000255980.2, |