rs387906859
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906859(A;A) |
Make rs387906859(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 16150765 |
Gene | ABCC6 |
is a | snp |
is | mentioned by |
dbSNP | rs387906859 |
dbSNP (classic) | rs387906859 |
ClinGen | rs387906859 |
ebi | rs387906859 |
HLI | rs387906859 |
Exac | rs387906859 |
Gnomad | rs387906859 |
Varsome | rs387906859 |
LitVar | rs387906859 |
Map | rs387906859 |
PheGenI | rs387906859 |
Biobank | rs387906859 |
1000 genomes | rs387906859 |
hgdp | rs387906859 |
ensembl | rs387906859 |
geneview | rs387906859 |
scholar | rs387906859 |
rs387906859 | |
pharmgkb | rs387906859 |
gwascentral | rs387906859 |
openSNP | rs387906859 |
23andMe | rs387906859 |
SNPshot | rs387906859 |
SNPdbe | rs387906859 |
MSV3d | rs387906859 |
GWAS Ctlg | rs387906859 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906859(A;A) |
Alt | rs387906859(A;A) |
Reference | Rs387906859(C;C) |
Significance | Pathogenic |
Disease | Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2 |
Variation | info |
Gene | ABCC6 |
CLNDBN | Pseudoxanthoma elasticum Generalized arterial calcification of infancy 2 |
Reversed | 1 |
HGVS | NC_000016.9:g.16244622G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023277.3, RCV000023278.3, |