rs387906353
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AAACGCTGTTTGAGCAGCAGAACATGTACAGGC;AAACGCTGTTTGAGCAGCAGAACATGTACAGGC) | 0 | common in clinvar |
Make rs387906353(-;-) |
Make rs387906353(-;CAAACGCTGTTTGAGCAGCAGAACATGTACAGG) |
Make rs387906353(CAAACGCTGTTTGAGCAGCAGAACATGTACAGG;CAAACGCTGTTTGAGCAGCAGAACATGTACAGG) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16202058 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs387906353 |
dbSNP (classic) | rs387906353 |
ClinGen | rs387906353 |
ebi | rs387906353 |
HLI | rs387906353 |
Exac | rs387906353 |
Gnomad | rs387906353 |
Varsome | rs387906353 |
LitVar | rs387906353 |
Map | rs387906353 |
PheGenI | rs387906353 |
Biobank | rs387906353 |
1000 genomes | rs387906353 |
hgdp | rs387906353 |
ensembl | rs387906353 |
geneview | rs387906353 |
scholar | rs387906353 |
rs387906353 | |
pharmgkb | rs387906353 |
gwascentral | rs387906353 |
openSNP | rs387906353 |
23andMe | rs387906353 |
SNPshot | rs387906353 |
SNPdbe | rs387906353 |
MSV3d | rs387906353 |
GWAS Ctlg | rs387906353 |
Merged from | Rs74315156 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906353(CAAACGCTGTTTGAGCAGCAGAACATGTACAGG;CAAACGCTGTTTGAGCAGCAGAACATGTACAGG) rs387906353(-;-) |
Alt | rs387906353(CAAACGCTGTTTGAGCAGCAGAACATGTACAGG;CAAACGCTGTTTGAGCAGCAGAACATGTACAGG) rs387906353(-;-) |
Reference | Rs387906353(AAACGCTGTTTGAGCAGCAGAACATGTACAGGC;AAACGCTGTTTGAGCAGCAGAACATGTACAGGC) |
Significance | Pathogenic |
Disease | Pseudoxanthoma elasticum |
Variation | info |
Gene | ABCC6 |
CLNDBN | Pseudoxanthoma elasticum |
Reversed | 1 |
HGVS | NC_000016.9:g.16295915_16295947del33 |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006960.4, |