rs144045461
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144045461(C;T) |
Make rs144045461(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 22 |
Position | 33283287 |
Gene | LARGE, LARGE1 |
is a | snp |
is | mentioned by |
dbSNP | rs144045461 |
dbSNP (classic) | rs144045461 |
ClinGen | rs144045461 |
ebi | rs144045461 |
HLI | rs144045461 |
Exac | rs144045461 |
Gnomad | rs144045461 |
Varsome | rs144045461 |
LitVar | rs144045461 |
Map | rs144045461 |
PheGenI | rs144045461 |
Biobank | rs144045461 |
1000 genomes | rs144045461 |
hgdp | rs144045461 |
ensembl | rs144045461 |
geneview | rs144045461 |
scholar | rs144045461 |
rs144045461 | |
pharmgkb | rs144045461 |
gwascentral | rs144045461 |
openSNP | rs144045461 |
23andMe | rs144045461 |
SNPshot | rs144045461 |
SNPdbe | rs144045461 |
MSV3d | rs144045461 |
GWAS Ctlg | rs144045461 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144045461(T;T) |
Alt | rs144045461(T;T) |
Reference | Rs144045461(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | LARGE1 LARGE |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.33679273C>T |
CLNSRC | |
CLNACC | RCV000171355.1, |