rs730880125
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs730880125(C;T) |
Make rs730880125(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 49124920 |
Gene | LAMB2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880125 |
dbSNP (classic) | rs730880125 |
ClinGen | rs730880125 |
ebi | rs730880125 |
HLI | rs730880125 |
Exac | rs730880125 |
Gnomad | rs730880125 |
Varsome | rs730880125 |
LitVar | rs730880125 |
Map | rs730880125 |
PheGenI | rs730880125 |
Biobank | rs730880125 |
1000 genomes | rs730880125 |
hgdp | rs730880125 |
ensembl | rs730880125 |
geneview | rs730880125 |
scholar | rs730880125 |
rs730880125 | |
pharmgkb | rs730880125 |
gwascentral | rs730880125 |
openSNP | rs730880125 |
23andMe | rs730880125 |
SNPshot | rs730880125 |
SNPdbe | rs730880125 |
MSV3d | rs730880125 |
GWAS Ctlg | rs730880125 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880125(T;T) |
Alt | rs730880125(T;T) |
Reference | Rs730880125(C;C) |
Significance | Pathogenic |
Disease | Pierson syndrome |
Variation | info |
Gene | LAMB2 |
CLNDBN | Pierson syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.49162353G>A |
CLNSRC | |
CLNACC | RCV000157282.1, |