rs74315109
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACGGAGC;ACGGAGC) | 0 | common in clinvar |
Make rs74315109(-;-) |
Make rs74315109(-;ACGGAGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16150669 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs74315109 |
dbSNP (classic) | rs74315109 |
ClinGen | rs74315109 |
ebi | rs74315109 |
HLI | rs74315109 |
Exac | rs74315109 |
Gnomad | rs74315109 |
Varsome | rs74315109 |
LitVar | rs74315109 |
Map | rs74315109 |
PheGenI | rs74315109 |
Biobank | rs74315109 |
1000 genomes | rs74315109 |
hgdp | rs74315109 |
ensembl | rs74315109 |
geneview | rs74315109 |
scholar | rs74315109 |
rs74315109 | |
pharmgkb | rs74315109 |
gwascentral | rs74315109 |
openSNP | rs74315109 |
23andMe | rs74315109 |
SNPshot | rs74315109 |
SNPdbe | rs74315109 |
MSV3d | rs74315109 |
GWAS Ctlg | rs74315109 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs74315109(ACGGAGC;ACGGAGC) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16244526_16244532delGCTCCGT |
CLNSRC | |
CLNACC |
[PMID 18253096] ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.