rs121908326
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908326(A;A) |
Make rs121908326(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 25563142 |
Gene | LDLRAP1 |
is a | snp |
is | mentioned by |
dbSNP | rs121908326 |
dbSNP (classic) | rs121908326 |
ClinGen | rs121908326 |
ebi | rs121908326 |
HLI | rs121908326 |
Exac | rs121908326 |
Gnomad | rs121908326 |
Varsome | rs121908326 |
LitVar | rs121908326 |
Map | rs121908326 |
PheGenI | rs121908326 |
Biobank | rs121908326 |
1000 genomes | rs121908326 |
hgdp | rs121908326 |
ensembl | rs121908326 |
geneview | rs121908326 |
scholar | rs121908326 |
rs121908326 | |
pharmgkb | rs121908326 |
gwascentral | rs121908326 |
openSNP | rs121908326 |
23andMe | rs121908326 |
SNPshot | rs121908326 |
SNPdbe | rs121908326 |
MSV3d | rs121908326 |
GWAS Ctlg | rs121908326 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908326(A;A) rs121908326(G;G) |
Alt | rs121908326(A;A) rs121908326(G;G) |
Reference | Rs121908326(C;C) |
Significance | Pathogenic |
Disease | Hypercholesterolemia |
Variation | info |
Gene | LDLRAP1 |
CLNDBN | Hypercholesterolemia, autosomal recessive |
Reversed | 0 |
HGVS | NC_000001.10:g.25889633C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005042.2, |