rs193922571
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(C;G) | 5 | Familial Hypercholesterolemia |
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs193922571(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 11105268 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs193922571 |
dbSNP (classic) | rs193922571 |
ClinGen | rs193922571 |
ebi | rs193922571 |
HLI | rs193922571 |
Exac | rs193922571 |
Gnomad | rs193922571 |
Varsome | rs193922571 |
LitVar | rs193922571 |
Map | rs193922571 |
PheGenI | rs193922571 |
Biobank | rs193922571 |
1000 genomes | rs193922571 |
hgdp | rs193922571 |
ensembl | rs193922571 |
geneview | rs193922571 |
scholar | rs193922571 |
rs193922571 | |
pharmgkb | rs193922571 |
gwascentral | rs193922571 |
openSNP | rs193922571 |
23andMe | rs193922571 |
SNPshot | rs193922571 |
SNPdbe | rs193922571 |
MSV3d | rs193922571 |
GWAS Ctlg | rs193922571 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs193922571(A;A) rs193922571(C;C) rs193922571(T;T) |
Alt | rs193922571(A;A) rs193922571(C;C) rs193922571(T;T) |
Reference | Rs193922571(G;G) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11215944G>A; NC_000019.9:g.11215944G>C; NC_000019.9:g.11215944G>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000030136.2, RCV000238114.1, RCV000238518.1, |
[PMID 16465405] Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent.
[PMID 18096825] Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.