rs121913570
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121913570(C;C) |
Make rs121913570(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 129481381 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs121913570 |
dbSNP (classic) | rs121913570 |
ClinGen | rs121913570 |
ebi | rs121913570 |
HLI | rs121913570 |
Exac | rs121913570 |
Gnomad | rs121913570 |
Varsome | rs121913570 |
LitVar | rs121913570 |
Map | rs121913570 |
PheGenI | rs121913570 |
Biobank | rs121913570 |
1000 genomes | rs121913570 |
hgdp | rs121913570 |
ensembl | rs121913570 |
geneview | rs121913570 |
scholar | rs121913570 |
rs121913570 | |
pharmgkb | rs121913570 |
gwascentral | rs121913570 |
openSNP | rs121913570 |
23andMe | rs121913570 |
SNPshot | rs121913570 |
SNPdbe | rs121913570 |
MSV3d | rs121913570 |
GWAS Ctlg | rs121913570 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913570(C;C) |
Alt | rs121913570(C;C) |
Reference | Rs121913570(T;T) |
Significance | Pathogenic |
Disease | Merosin deficient congenital muscular dystrophy |
Variation | info |
Gene | LAMA2 |
CLNDBN | Merosin deficient congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000006.11:g.129802526T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015364.25, RCV000228823.1, |