rs386134139
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386134139(A;A) |
Make rs386134139(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 149186733 |
Gene | CP |
is a | snp |
is | mentioned by |
dbSNP | rs386134139 |
dbSNP (classic) | rs386134139 |
ClinGen | rs386134139 |
ebi | rs386134139 |
HLI | rs386134139 |
Exac | rs386134139 |
Gnomad | rs386134139 |
Varsome | rs386134139 |
LitVar | rs386134139 |
Map | rs386134139 |
PheGenI | rs386134139 |
Biobank | rs386134139 |
1000 genomes | rs386134139 |
hgdp | rs386134139 |
ensembl | rs386134139 |
geneview | rs386134139 |
scholar | rs386134139 |
rs386134139 | |
pharmgkb | rs386134139 |
gwascentral | rs386134139 |
openSNP | rs386134139 |
23andMe | rs386134139 |
SNPshot | rs386134139 |
SNPdbe | rs386134139 |
MSV3d | rs386134139 |
GWAS Ctlg | rs386134139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134139(A;A) |
Alt | rs386134139(A;A) |
Reference | Rs386134139(G;G) |
Significance | Pathogenic |
Disease | Deficiency of ferroxidase |
Variation | info |
Gene | CP |
CLNDBN | Deficiency of ferroxidase |
Reversed | 1 |
HGVS | NC_000003.11:g.148904520C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034966.1, |