rs113298164
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs113298164(C;T) |
Make rs113298164(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 58563549 |
Gene | LIPC |
is a | snp |
is | mentioned by |
dbSNP | rs113298164 |
dbSNP (classic) | rs113298164 |
ClinGen | rs113298164 |
ebi | rs113298164 |
HLI | rs113298164 |
Exac | rs113298164 |
Gnomad | rs113298164 |
Varsome | rs113298164 |
LitVar | rs113298164 |
Map | rs113298164 |
PheGenI | rs113298164 |
Biobank | rs113298164 |
1000 genomes | rs113298164 |
hgdp | rs113298164 |
ensembl | rs113298164 |
geneview | rs113298164 |
scholar | rs113298164 |
rs113298164 | |
pharmgkb | rs113298164 |
gwascentral | rs113298164 |
openSNP | rs113298164 |
23andMe | rs113298164 |
SNPshot | rs113298164 |
SNPdbe | rs113298164 |
MSV3d | rs113298164 |
GWAS Ctlg | rs113298164 |
Merged from | Rs28933094 |
GMAF | 0.002755 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113298164(T;T) |
Alt | rs113298164(T;T) |
Reference | Rs113298164(C;C) |
Significance | Pathogenic |
Disease | Hepatic lipase deficiency |
Variation | info |
Gene | LIPC |
CLNDBN | Hepatic lipase deficiency |
Reversed | 0 |
HGVS | NC_000015.9:g.58855748C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015536.25, |