rs748554592
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 5 | Familial Hypercholesterolemia |
(T;T) | 0 | common in clinvar |
Make rs748554592(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11113332 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs748554592 |
dbSNP (classic) | rs748554592 |
ClinGen | rs748554592 |
ebi | rs748554592 |
HLI | rs748554592 |
Exac | rs748554592 |
Gnomad | rs748554592 |
Varsome | rs748554592 |
LitVar | rs748554592 |
Map | rs748554592 |
PheGenI | rs748554592 |
Biobank | rs748554592 |
1000 genomes | rs748554592 |
hgdp | rs748554592 |
ensembl | rs748554592 |
geneview | rs748554592 |
scholar | rs748554592 |
rs748554592 | |
pharmgkb | rs748554592 |
gwascentral | rs748554592 |
openSNP | rs748554592 |
23andMe | rs748554592 |
SNPshot | rs748554592 |
SNPdbe | rs748554592 |
MSV3d | rs748554592 |
GWAS Ctlg | rs748554592 |
Max Magnitude | 5 |
aka c.1241T>G (p.Leu414Arg or L414R); one of the most frequent familial hypercholesterolemia mutations in East Asians
ClinVar | |
---|---|
Risk | rs748554592(G;G) |
Alt | rs748554592(G;G) |
Reference | Rs748554592(T;T) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11224008T>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238583.2, |