rs28937579
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 |
Make rs28937579(A;G) |
Make rs28937579(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 101371179 |
Gene | BAAT |
is a | snp |
is | mentioned by |
dbSNP | rs28937579 |
dbSNP (classic) | rs28937579 |
ClinGen | rs28937579 |
ebi | rs28937579 |
HLI | rs28937579 |
Exac | rs28937579 |
Gnomad | rs28937579 |
Varsome | rs28937579 |
LitVar | rs28937579 |
Map | rs28937579 |
PheGenI | rs28937579 |
Biobank | rs28937579 |
1000 genomes | rs28937579 |
hgdp | rs28937579 |
ensembl | rs28937579 |
geneview | rs28937579 |
scholar | rs28937579 |
rs28937579 | |
pharmgkb | rs28937579 |
gwascentral | rs28937579 |
openSNP | rs28937579 |
23andMe | rs28937579 |
SNPshot | rs28937579 |
SNPdbe | rs28937579 |
MSV3d | rs28937579 |
GWAS Ctlg | rs28937579 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28937579(G;G) |
Alt | rs28937579(G;G) |
Reference | Rs28937579(A;A) |
Significance | Pathogenic |
Disease | Hypercholanemia |
Variation | info |
Gene | BAAT |
CLNDBN | Hypercholanemia, familial |
Reversed | 1 |
HGVS | NC_000009.11:g.104133461T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007112.2, |