rs554254383
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs554254383(A;A) |
Make rs554254383(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 22 |
Position | 40364976 |
Gene | ADSL |
is a | snp |
is | mentioned by |
dbSNP | rs554254383 |
dbSNP (classic) | rs554254383 |
ClinGen | rs554254383 |
ebi | rs554254383 |
HLI | rs554254383 |
Exac | rs554254383 |
Gnomad | rs554254383 |
Varsome | rs554254383 |
LitVar | rs554254383 |
Map | rs554254383 |
PheGenI | rs554254383 |
Biobank | rs554254383 |
1000 genomes | rs554254383 |
hgdp | rs554254383 |
ensembl | rs554254383 |
geneview | rs554254383 |
scholar | rs554254383 |
rs554254383 | |
pharmgkb | rs554254383 |
gwascentral | rs554254383 |
openSNP | rs554254383 |
23andMe | rs554254383 |
SNPshot | rs554254383 |
SNPdbe | rs554254383 |
MSV3d | rs554254383 |
GWAS Ctlg | rs554254383 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs554254383(A;A) |
Alt | rs554254383(A;A) |
Reference | Rs554254383(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ADSL |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000022.10:g.40760980G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000186694.1, |