rs727502851
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs727502851(C;T) |
Make rs727502851(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 129486612 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs727502851 |
dbSNP (classic) | rs727502851 |
ClinGen | rs727502851 |
ebi | rs727502851 |
HLI | rs727502851 |
Exac | rs727502851 |
Gnomad | rs727502851 |
Varsome | rs727502851 |
LitVar | rs727502851 |
Map | rs727502851 |
PheGenI | rs727502851 |
Biobank | rs727502851 |
1000 genomes | rs727502851 |
hgdp | rs727502851 |
ensembl | rs727502851 |
geneview | rs727502851 |
scholar | rs727502851 |
rs727502851 | |
pharmgkb | rs727502851 |
gwascentral | rs727502851 |
openSNP | rs727502851 |
23andMe | rs727502851 |
SNPshot | rs727502851 |
SNPdbe | rs727502851 |
MSV3d | rs727502851 |
GWAS Ctlg | rs727502851 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502851(T;T) |
Alt | rs727502851(T;T) |
Reference | Rs727502851(C;C) |
Significance | Pathogenic |
Disease | Congenital muscular dystrophy |
Variation | info |
Gene | LAMA2 |
CLNDBN | Congenital muscular dystrophy |
Reversed | 0 |
HGVS | NC_000006.11:g.129807757C>T |
CLNSRC | |
CLNACC | RCV000149989.1, |