rs67470842
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs67470842(A;G) |
Make rs67470842(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16182856 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs67470842 |
dbSNP (classic) | rs67470842 |
ClinGen | rs67470842 |
ebi | rs67470842 |
HLI | rs67470842 |
Exac | rs67470842 |
Gnomad | rs67470842 |
Varsome | rs67470842 |
LitVar | rs67470842 |
Map | rs67470842 |
PheGenI | rs67470842 |
Biobank | rs67470842 |
1000 genomes | rs67470842 |
hgdp | rs67470842 |
ensembl | rs67470842 |
geneview | rs67470842 |
scholar | rs67470842 |
rs67470842 | |
pharmgkb | rs67470842 |
gwascentral | rs67470842 |
openSNP | rs67470842 |
23andMe | rs67470842 |
SNPshot | rs67470842 |
SNPdbe | rs67470842 |
MSV3d | rs67470842 |
GWAS Ctlg | rs67470842 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs67470842(G;G) |
Alt | rs67470842(G;G) |
Reference | Rs67470842(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ABCC6 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000016.9:g.16276713A>G |
CLNSRC | |
CLNACC | RCV000444456.1, |
[PMID 11536079] A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.