rs66864704
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs66864704(A;G) |
Make rs66864704(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16188907 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs66864704 |
dbSNP (classic) | rs66864704 |
ClinGen | rs66864704 |
ebi | rs66864704 |
HLI | rs66864704 |
Exac | rs66864704 |
Gnomad | rs66864704 |
Varsome | rs66864704 |
LitVar | rs66864704 |
Map | rs66864704 |
PheGenI | rs66864704 |
Biobank | rs66864704 |
1000 genomes | rs66864704 |
hgdp | rs66864704 |
ensembl | rs66864704 |
geneview | rs66864704 |
scholar | rs66864704 |
rs66864704 | |
pharmgkb | rs66864704 |
gwascentral | rs66864704 |
openSNP | rs66864704 |
23andMe | rs66864704 |
SNPshot | rs66864704 |
SNPdbe | rs66864704 |
MSV3d | rs66864704 |
GWAS Ctlg | rs66864704 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs66864704(G;G) |
Alt | rs66864704(G;G) |
Reference | Rs66864704(A;A) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 0 |
HGVS | NC_000016.9:g.16282764A>G |
CLNSRC | |
CLNACC |
[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.