rs746762473
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs746762473(A;A) |
Make rs746762473(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 6 |
Position | 129402366 |
Gene | LAMA2 |
is a | snp |
is | mentioned by |
dbSNP | rs746762473 |
dbSNP (classic) | rs746762473 |
ClinGen | rs746762473 |
ebi | rs746762473 |
HLI | rs746762473 |
Exac | rs746762473 |
Gnomad | rs746762473 |
Varsome | rs746762473 |
LitVar | rs746762473 |
Map | rs746762473 |
PheGenI | rs746762473 |
Biobank | rs746762473 |
1000 genomes | rs746762473 |
hgdp | rs746762473 |
ensembl | rs746762473 |
geneview | rs746762473 |
scholar | rs746762473 |
rs746762473 | |
pharmgkb | rs746762473 |
gwascentral | rs746762473 |
openSNP | rs746762473 |
23andMe | rs746762473 |
SNPshot | rs746762473 |
SNPdbe | rs746762473 |
MSV3d | rs746762473 |
GWAS Ctlg | rs746762473 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746762473(A;A) rs746762473(T;T) |
Alt | rs746762473(A;A) rs746762473(T;T) |
Reference | Rs746762473(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.129723511G>T |
CLNSRC | |
CLNACC | RCV000306212.1, |