rs751141
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs751141(C;T) |
Make rs751141(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 27516348 |
Gene | EPHX2 |
is a | snp |
is | mentioned by |
dbSNP | rs751141 |
dbSNP (classic) | rs751141 |
ClinGen | rs751141 |
ebi | rs751141 |
HLI | rs751141 |
Exac | rs751141 |
Gnomad | rs751141 |
Varsome | rs751141 |
LitVar | rs751141 |
Map | rs751141 |
PheGenI | rs751141 |
Biobank | rs751141 |
1000 genomes | rs751141 |
hgdp | rs751141 |
ensembl | rs751141 |
geneview | rs751141 |
scholar | rs751141 |
rs751141 | |
pharmgkb | rs751141 |
gwascentral | rs751141 |
openSNP | rs751141 |
23andMe | rs751141 |
SNPshot | rs751141 |
SNPdbe | rs751141 |
MSV3d | rs751141 |
GWAS Ctlg | rs751141 |
GMAF | 0.1428 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs751141(T;T) |
Alt | rs751141(T;T) |
Reference | Rs751141(C;C) |
Significance | Other |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | EPHX2 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 1 |
HGVS | NC_000008.10:g.27373865G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000018074.24, |
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