rs875989938
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Familial Hypercholesterolemia |
(G;G) | 0 | common/normal |
(G;T) | 5 | Familial Hypercholesterolemia |
Make rs875989938(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 19 |
Position | 11120412 |
Gene | LDLR |
is a | snp |
is | mentioned by |
dbSNP | rs875989938 |
dbSNP (classic) | rs875989938 |
ClinGen | rs875989938 |
ebi | rs875989938 |
HLI | rs875989938 |
Exac | rs875989938 |
Gnomad | rs875989938 |
Varsome | rs875989938 |
LitVar | rs875989938 |
Map | rs875989938 |
PheGenI | rs875989938 |
Biobank | rs875989938 |
1000 genomes | rs875989938 |
hgdp | rs875989938 |
ensembl | rs875989938 |
geneview | rs875989938 |
scholar | rs875989938 |
rs875989938 | |
pharmgkb | rs875989938 |
gwascentral | rs875989938 |
openSNP | rs875989938 |
23andMe | rs875989938 |
SNPshot | rs875989938 |
SNPdbe | rs875989938 |
MSV3d | rs875989938 |
GWAS Ctlg | rs875989938 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs875989938(A;A) rs875989938(T;T) |
Alt | rs875989938(A;A) rs875989938(T;T) |
Reference | Rs875989938(G;G) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11231088G>A; NC_000019.9:g.11231088G>T |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238301.1, RCV000211595.2, |