rs875989943
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 5 | Familial Hypercholesterolemia |
Make rs875989943(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11128040 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs875989943 |
dbSNP (classic) | rs875989943 |
ClinGen | rs875989943 |
ebi | rs875989943 |
HLI | rs875989943 |
Exac | rs875989943 |
Gnomad | rs875989943 |
Varsome | rs875989943 |
LitVar | rs875989943 |
Map | rs875989943 |
PheGenI | rs875989943 |
Biobank | rs875989943 |
1000 genomes | rs875989943 |
hgdp | rs875989943 |
ensembl | rs875989943 |
geneview | rs875989943 |
scholar | rs875989943 |
rs875989943 | |
pharmgkb | rs875989943 |
gwascentral | rs875989943 |
openSNP | rs875989943 |
23andMe | rs875989943 |
SNPshot | rs875989943 |
SNPdbe | rs875989943 |
MSV3d | rs875989943 |
GWAS Ctlg | rs875989943 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs875989943(T;T) |
Alt | rs875989943(T;T) |
Reference | Rs875989943(A;A) |
Significance | Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11238716A>T |
CLNSRC | |
CLNACC | RCV000211559.1, |