rs17222547
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs17222547(A;A) |
Make rs17222547(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 99831628 |
Gene | ABCC2 |
is a | snp |
is | mentioned by |
dbSNP | rs17222547 |
dbSNP (classic) | rs17222547 |
ClinGen | rs17222547 |
ebi | rs17222547 |
HLI | rs17222547 |
Exac | rs17222547 |
Gnomad | rs17222547 |
Varsome | rs17222547 |
LitVar | rs17222547 |
Map | rs17222547 |
PheGenI | rs17222547 |
Biobank | rs17222547 |
1000 genomes | rs17222547 |
hgdp | rs17222547 |
ensembl | rs17222547 |
geneview | rs17222547 |
scholar | rs17222547 |
rs17222547 | |
pharmgkb | rs17222547 |
gwascentral | rs17222547 |
openSNP | rs17222547 |
23andMe | rs17222547 |
SNPshot | rs17222547 |
SNPdbe | rs17222547 |
MSV3d | rs17222547 |
GWAS Ctlg | rs17222547 |
Max Magnitude | 0 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs17222547(A;A) |
Alt | rs17222547(A;A) |
Reference | Rs17222547(C;C) |
Significance | Pathogenic |
Disease | Dubin-Johnson syndrome |
Variation | info |
Gene | ABCC2 |
CLNDBN | Dubin-Johnson syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.101591385C>A |
CLNSRC | |
CLNACC | RCV000176262.1, |