rs121434554
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434554(C;T) |
Make rs121434554(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 237381419 |
Gene | COL6A3 |
is a | snp |
is | mentioned by |
dbSNP | rs121434554 |
dbSNP (classic) | rs121434554 |
ClinGen | rs121434554 |
ebi | rs121434554 |
HLI | rs121434554 |
Exac | rs121434554 |
Gnomad | rs121434554 |
Varsome | rs121434554 |
LitVar | rs121434554 |
Map | rs121434554 |
PheGenI | rs121434554 |
Biobank | rs121434554 |
1000 genomes | rs121434554 |
hgdp | rs121434554 |
ensembl | rs121434554 |
geneview | rs121434554 |
scholar | rs121434554 |
rs121434554 | |
pharmgkb | rs121434554 |
gwascentral | rs121434554 |
openSNP | rs121434554 |
23andMe | rs121434554 |
SNPshot | rs121434554 |
SNPdbe | rs121434554 |
MSV3d | rs121434554 |
GWAS Ctlg | rs121434554 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434554(T;T) |
Alt | rs121434554(T;T) |
Reference | Rs121434554(C;C) |
Significance | Pathogenic |
Disease | Ullrich congenital muscular dystrophy 1 |
Variation | info |
Gene | COL6A3 |
CLNDBN | Ullrich congenital muscular dystrophy 1 |
Reversed | 1 |
HGVS | NC_000002.11:g.238290062G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018691.28, |