rs746982741
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;C) | 5 | Familial Hypercholesterolemia |
(A;G) | 5 | Familial Hypercholesterolemia |
Make rs746982741(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 11111550 |
Gene | LDLR, MIR6886 |
is a | snp |
is | mentioned by |
dbSNP | rs746982741 |
dbSNP (classic) | rs746982741 |
ClinGen | rs746982741 |
ebi | rs746982741 |
HLI | rs746982741 |
Exac | rs746982741 |
Gnomad | rs746982741 |
Varsome | rs746982741 |
LitVar | rs746982741 |
Map | rs746982741 |
PheGenI | rs746982741 |
Biobank | rs746982741 |
1000 genomes | rs746982741 |
hgdp | rs746982741 |
ensembl | rs746982741 |
geneview | rs746982741 |
scholar | rs746982741 |
rs746982741 | |
pharmgkb | rs746982741 |
gwascentral | rs746982741 |
openSNP | rs746982741 |
23andMe | rs746982741 |
SNPshot | rs746982741 |
SNPdbe | rs746982741 |
MSV3d | rs746982741 |
GWAS Ctlg | rs746982741 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs746982741(C;C) rs746982741(G;G) |
Alt | rs746982741(C;C) rs746982741(G;G) |
Reference | Rs746982741(A;A) |
Significance | Probable-Pathogenic |
Disease | Familial hypercholesterolemia |
Variation | info |
Gene | LDLR MIR6886 |
CLNDBN | Familial hypercholesterolemia |
Reversed | 0 |
HGVS | NC_000019.9:g.11222226A>C; NC_000019.9:g.11222226A>G |
CLNSRC | LDLR @ LOVD |
CLNACC | RCV000238412.1, RCV000237564.1, |