rs72664283
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs72664283(A;G) |
Make rs72664283(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 16202100 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs72664283 |
dbSNP (classic) | rs72664283 |
ClinGen | rs72664283 |
ebi | rs72664283 |
HLI | rs72664283 |
Exac | rs72664283 |
Gnomad | rs72664283 |
Varsome | rs72664283 |
LitVar | rs72664283 |
Map | rs72664283 |
PheGenI | rs72664283 |
Biobank | rs72664283 |
1000 genomes | rs72664283 |
hgdp | rs72664283 |
ensembl | rs72664283 |
geneview | rs72664283 |
scholar | rs72664283 |
rs72664283 | |
pharmgkb | rs72664283 |
gwascentral | rs72664283 |
openSNP | rs72664283 |
23andMe | rs72664283 |
SNPshot | rs72664283 |
SNPdbe | rs72664283 |
MSV3d | rs72664283 |
GWAS Ctlg | rs72664283 |
GMAF | 0.01607 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs72664283(C;C) rs72664283(G;G) |
Alt | rs72664283(C;C) rs72664283(G;G) |
Reference | Rs72664283(A;A) |
Significance | Probable-non-pathogenic |
Disease | not specified |
Variation | info |
Gene | ABCC6 |
CLNDBN | not specified |
Reversed | 1 |
HGVS | NC_000016.9:g.16295957T>C; NC_000016.9:g.16295957T>G |
CLNSRC | |
CLNACC | RCV000428599.1, RCV000444897.1, |
[PMID 11692167] A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.