rs119479066
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs119479066(C;T) |
Make rs119479066(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 43826429 |
Gene | ABCG5, DYNC2LI1 |
is a | snp |
is | mentioned by |
dbSNP | rs119479066 |
dbSNP (classic) | rs119479066 |
ClinGen | rs119479066 |
ebi | rs119479066 |
HLI | rs119479066 |
Exac | rs119479066 |
Gnomad | rs119479066 |
Varsome | rs119479066 |
LitVar | rs119479066 |
Map | rs119479066 |
PheGenI | rs119479066 |
Biobank | rs119479066 |
1000 genomes | rs119479066 |
hgdp | rs119479066 |
ensembl | rs119479066 |
geneview | rs119479066 |
scholar | rs119479066 |
rs119479066 | |
pharmgkb | rs119479066 |
gwascentral | rs119479066 |
openSNP | rs119479066 |
23andMe | rs119479066 |
SNPshot | rs119479066 |
SNPdbe | rs119479066 |
MSV3d | rs119479066 |
GWAS Ctlg | rs119479066 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119479066(T;T) |
Alt | rs119479066(T;T) |
Reference | Rs119479066(C;C) |
Significance | Pathogenic |
Disease | Sitosterolemia |
Variation | info |
Gene | DYNC2LI1 ABCG5 |
CLNDBN | Sitosterolemia |
Reversed | 1 |
HGVS | NC_000002.11:g.44053568G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005265.2, |