rs119479067
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs119479067(A;A) |
Make rs119479067(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 43823981 |
Gene | ABCG5, DYNC2LI1 |
is a | snp |
is | mentioned by |
dbSNP | rs119479067 |
dbSNP (classic) | rs119479067 |
ClinGen | rs119479067 |
ebi | rs119479067 |
HLI | rs119479067 |
Exac | rs119479067 |
Gnomad | rs119479067 |
Varsome | rs119479067 |
LitVar | rs119479067 |
Map | rs119479067 |
PheGenI | rs119479067 |
Biobank | rs119479067 |
1000 genomes | rs119479067 |
hgdp | rs119479067 |
ensembl | rs119479067 |
geneview | rs119479067 |
scholar | rs119479067 |
rs119479067 | |
pharmgkb | rs119479067 |
gwascentral | rs119479067 |
openSNP | rs119479067 |
23andMe | rs119479067 |
SNPshot | rs119479067 |
SNPdbe | rs119479067 |
MSV3d | rs119479067 |
GWAS Ctlg | rs119479067 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119479067(A;A) rs119479067(C;C) |
Alt | rs119479067(A;A) rs119479067(C;C) |
Reference | Rs119479067(G;G) |
Significance | Pathogenic |
Disease | Sitosterolemia |
Variation | info |
Gene | DYNC2LI1 ABCG5 |
CLNDBN | Sitosterolemia |
Reversed | 1 |
HGVS | NC_000002.11:g.44051120C>G; NC_000002.11:g.44051120C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005267.3, RCV000005266.2, |