rs72664289
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72664289(C;T) |
Make rs72664289(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16150676 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs72664289 |
dbSNP (classic) | rs72664289 |
ClinGen | rs72664289 |
ebi | rs72664289 |
HLI | rs72664289 |
Exac | rs72664289 |
Gnomad | rs72664289 |
Varsome | rs72664289 |
LitVar | rs72664289 |
Map | rs72664289 |
PheGenI | rs72664289 |
Biobank | rs72664289 |
1000 genomes | rs72664289 |
hgdp | rs72664289 |
ensembl | rs72664289 |
geneview | rs72664289 |
scholar | rs72664289 |
rs72664289 | |
pharmgkb | rs72664289 |
gwascentral | rs72664289 |
openSNP | rs72664289 |
23andMe | rs72664289 |
SNPshot | rs72664289 |
SNPdbe | rs72664289 |
MSV3d | rs72664289 |
GWAS Ctlg | rs72664289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72664289(T;T) |
Alt | rs72664289(T;T) |
Reference | Rs72664289(C;C) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16244533G>A |
CLNSRC | |
CLNACC |
[PMID 16086317] Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.