rs137853963
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137853963(A;A) |
Make rs137853963(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 11123264 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs137853963 |
dbSNP (classic) | rs137853963 |
ClinGen | rs137853963 |
ebi | rs137853963 |
HLI | rs137853963 |
Exac | rs137853963 |
Gnomad | rs137853963 |
Varsome | rs137853963 |
LitVar | rs137853963 |
Map | rs137853963 |
PheGenI | rs137853963 |
Biobank | rs137853963 |
1000 genomes | rs137853963 |
hgdp | rs137853963 |
ensembl | rs137853963 |
geneview | rs137853963 |
scholar | rs137853963 |
rs137853963 | |
pharmgkb | rs137853963 |
gwascentral | rs137853963 |
openSNP | rs137853963 |
23andMe | rs137853963 |
SNPshot | rs137853963 |
SNPdbe | rs137853963 |
MSV3d | rs137853963 |
GWAS Ctlg | rs137853963 |
Max Magnitude | 0 |
rs137853963, also known as R744R, is a SNP in the low density lipoprotein receptor LDLR gene.
This SNP is being studied in participants in the NIH ClinSeq program.[PMID 19602640]
ClinVar | |
---|---|
Risk | rs137853963(A;A) |
Alt | rs137853963(A;A) |
Reference | Rs137853963(G;G) |
Significance | Other |
Disease | not provided Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | not provided Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11233940G>A |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000058922.2, RCV000172965.3, |