rs72664229
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs72664229(-;-) |
Make rs72664229(-;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16178891 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs72664229 |
dbSNP (classic) | rs72664229 |
ClinGen | rs72664229 |
ebi | rs72664229 |
HLI | rs72664229 |
Exac | rs72664229 |
Gnomad | rs72664229 |
Varsome | rs72664229 |
LitVar | rs72664229 |
Map | rs72664229 |
PheGenI | rs72664229 |
Biobank | rs72664229 |
1000 genomes | rs72664229 |
hgdp | rs72664229 |
ensembl | rs72664229 |
geneview | rs72664229 |
scholar | rs72664229 |
rs72664229 | |
pharmgkb | rs72664229 |
gwascentral | rs72664229 |
openSNP | rs72664229 |
23andMe | rs72664229 |
SNPshot | rs72664229 |
SNPdbe | rs72664229 |
MSV3d | rs72664229 |
GWAS Ctlg | rs72664229 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs72664229(C;C) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16272748delG |
CLNSRC | |
CLNACC |
[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.