rs121912937
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121912937(C;G) |
Make rs121912937(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 46001981 |
Gene | COL6A1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912937 |
dbSNP (classic) | rs121912937 |
ClinGen | rs121912937 |
ebi | rs121912937 |
HLI | rs121912937 |
Exac | rs121912937 |
Gnomad | rs121912937 |
Varsome | rs121912937 |
LitVar | rs121912937 |
Map | rs121912937 |
PheGenI | rs121912937 |
Biobank | rs121912937 |
1000 genomes | rs121912937 |
hgdp | rs121912937 |
ensembl | rs121912937 |
geneview | rs121912937 |
scholar | rs121912937 |
rs121912937 | |
pharmgkb | rs121912937 |
gwascentral | rs121912937 |
openSNP | rs121912937 |
23andMe | rs121912937 |
SNPshot | rs121912937 |
SNPdbe | rs121912937 |
MSV3d | rs121912937 |
GWAS Ctlg | rs121912937 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121912937(G;G) rs121912937(T;T) |
Alt | rs121912937(G;G) rs121912937(T;T) |
Reference | Rs121912937(C;C) |
Significance | Pathogenic |
Disease | Ullrich congenital muscular dystrophy 1 |
Variation | info |
Gene | COL6A1 |
CLNDBN | Ullrich congenital muscular dystrophy 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.47421895C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018719.25, |