rs74315139
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CTACGGCAAGAAGGGAGCCAGTGGC;CTACGGCAAGAAGGGAGCCAGTGGC) | 0 | common in clinvar |
Make rs74315139(-;-) |
Make rs74315139(-;CTACGGCAAGAAGGGAGCCAGTGGC) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16203519 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs74315139 |
dbSNP (classic) | rs74315139 |
ClinGen | rs74315139 |
ebi | rs74315139 |
HLI | rs74315139 |
Exac | rs74315139 |
Gnomad | rs74315139 |
Varsome | rs74315139 |
LitVar | rs74315139 |
Map | rs74315139 |
PheGenI | rs74315139 |
Biobank | rs74315139 |
1000 genomes | rs74315139 |
hgdp | rs74315139 |
ensembl | rs74315139 |
geneview | rs74315139 |
scholar | rs74315139 |
rs74315139 | |
pharmgkb | rs74315139 |
gwascentral | rs74315139 |
openSNP | rs74315139 |
23andMe | rs74315139 |
SNPshot | rs74315139 |
SNPdbe | rs74315139 |
MSV3d | rs74315139 |
GWAS Ctlg | rs74315139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs74315139(CTACGGCAAGAAGGGAGCCAGTGGC;CTACGGCAAGAAGGGAGCCAGTGGC) |
Significance | Untested |
Disease | |
Variation | info |
Gene | ABCC6 |
CLNDBN | |
Reversed | 1 |
HGVS | NC_000016.9:g.16297376_16297400del25 |
CLNSRC | |
CLNACC |
[PMID 12384774] Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.