rs863224891
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224891(G;T) |
Make rs863224891(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 129098299 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs863224891 |
dbSNP (classic) | rs863224891 |
ClinGen | rs863224891 |
ebi | rs863224891 |
HLI | rs863224891 |
Exac | rs863224891 |
Gnomad | rs863224891 |
Varsome | rs863224891 |
LitVar | rs863224891 |
Map | rs863224891 |
PheGenI | rs863224891 |
Biobank | rs863224891 |
1000 genomes | rs863224891 |
hgdp | rs863224891 |
ensembl | rs863224891 |
geneview | rs863224891 |
scholar | rs863224891 |
rs863224891 | |
pharmgkb | rs863224891 |
gwascentral | rs863224891 |
openSNP | rs863224891 |
23andMe | rs863224891 |
SNPshot | rs863224891 |
SNPdbe | rs863224891 |
MSV3d | rs863224891 |
GWAS Ctlg | rs863224891 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224891(T;T) |
Alt | rs863224891(T;T) |
Reference | Rs863224891(G;G) |
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.129419444G>T |
CLNSRC | |
CLNACC | RCV000200517.1, |