rs111033609
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs111033609(G;T) |
Make rs111033609(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 57695188 |
Gene | ATP8B1 |
is a | snp |
is | mentioned by |
dbSNP | rs111033609 |
dbSNP (classic) | rs111033609 |
ClinGen | rs111033609 |
ebi | rs111033609 |
HLI | rs111033609 |
Exac | rs111033609 |
Gnomad | rs111033609 |
Varsome | rs111033609 |
LitVar | rs111033609 |
Map | rs111033609 |
PheGenI | rs111033609 |
Biobank | rs111033609 |
1000 genomes | rs111033609 |
hgdp | rs111033609 |
ensembl | rs111033609 |
geneview | rs111033609 |
scholar | rs111033609 |
rs111033609 | |
pharmgkb | rs111033609 |
gwascentral | rs111033609 |
openSNP | rs111033609 |
23andMe | rs111033609 |
SNPshot | rs111033609 |
SNPdbe | rs111033609 |
MSV3d | rs111033609 |
GWAS Ctlg | rs111033609 |
Merged from | Rs121909097, Rs28939685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs111033609(T;T) |
Alt | rs111033609(T;T) |
Reference | Rs111033609(G;G) |
Significance | Pathogenic |
Disease | Progressive intrahepatic cholestasis |
Variation | info |
Gene | ATP8B1 |
CLNDBN | Progressive intrahepatic cholestasis |
Reversed | 1 |
HGVS | NC_000018.9:g.55362420C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007684.5, |