rs483353013
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs483353013(A;G) |
Make rs483353013(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 12 |
Position | 57175646 |
Gene | LRP1 |
is a | snp |
is | mentioned by |
dbSNP | rs483353013 |
dbSNP (classic) | rs483353013 |
ClinGen | rs483353013 |
ebi | rs483353013 |
HLI | rs483353013 |
Exac | rs483353013 |
Gnomad | rs483353013 |
Varsome | rs483353013 |
LitVar | rs483353013 |
Map | rs483353013 |
PheGenI | rs483353013 |
Biobank | rs483353013 |
1000 genomes | rs483353013 |
hgdp | rs483353013 |
ensembl | rs483353013 |
geneview | rs483353013 |
scholar | rs483353013 |
rs483353013 | |
pharmgkb | rs483353013 |
gwascentral | rs483353013 |
openSNP | rs483353013 |
23andMe | rs483353013 |
SNPshot | rs483353013 |
SNPdbe | rs483353013 |
MSV3d | rs483353013 |
GWAS Ctlg | rs483353013 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483353013(C;C) rs483353013(G;G) |
Alt | rs483353013(C;C) rs483353013(G;G) |
Reference | Rs483353013(A;A) |
Significance | Pathogenic |
Disease | Atrophoderma vermiculatum Keratosis pilaris |
Variation | info |
Gene | LRP1 |
CLNDBN | Atrophoderma vermiculatum Keratosis pilaris |
Reversed | 0 |
HGVS | NC_000012.11:g.57569429A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000119304.1, RCV000258847.1, |