rs9924755
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs9924755(A;A) |
Make rs9924755(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16177552 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs9924755 |
dbSNP (classic) | rs9924755 |
ClinGen | rs9924755 |
ebi | rs9924755 |
HLI | rs9924755 |
Exac | rs9924755 |
Gnomad | rs9924755 |
Varsome | rs9924755 |
LitVar | rs9924755 |
Map | rs9924755 |
PheGenI | rs9924755 |
Biobank | rs9924755 |
1000 genomes | rs9924755 |
hgdp | rs9924755 |
ensembl | rs9924755 |
geneview | rs9924755 |
scholar | rs9924755 |
rs9924755 | |
pharmgkb | rs9924755 |
gwascentral | rs9924755 |
openSNP | rs9924755 |
23andMe | rs9924755 |
SNPshot | rs9924755 |
SNPdbe | rs9924755 |
MSV3d | rs9924755 |
GWAS Ctlg | rs9924755 |
GMAF | 0.1598 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs9924755(A;A) |
Alt | rs9924755(A;A) |
Reference | Rs9924755(G;G) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.16271409G>A |
CLNSRC | |
CLNACC |
[PMID 10835642] Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.