rs569808959
From SNPedia
Merged into | rs80338720 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CATA;CATA) | 0 | common in clinvar |
Make rs569808959(-;-) |
Make rs569808959(-;CATA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 96189372 |
Gene | SLC25A13 |
is a | snp |
is | mentioned by |
dbSNP | rs569808959 |
dbSNP (classic) | rs569808959 |
ClinGen | rs569808959 |
ebi | rs569808959 |
HLI | rs569808959 |
Exac | rs569808959 |
Gnomad | rs569808959 |
Varsome | rs569808959 |
LitVar | rs569808959 |
Map | rs569808959 |
PheGenI | rs569808959 |
Biobank | rs569808959 |
1000 genomes | rs569808959 |
hgdp | rs569808959 |
ensembl | rs569808959 |
geneview | rs569808959 |
scholar | rs569808959 |
rs569808959 | |
pharmgkb | rs569808959 |
gwascentral | rs569808959 |
openSNP | rs569808959 |
23andMe | rs569808959 |
SNPshot | rs569808959 |
SNPdbe | rs569808959 |
MSV3d | rs569808959 |
GWAS Ctlg | rs569808959 |
Status | Merged into rs80338720 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs569808959(CATA;CATA) |
Significance | Pathogenic |
Disease | Neonatal intrahepatic cholestasis caused by citrin deficiency |
Variation | info |
Gene | SLC25A13 |
CLNDBN | Neonatal intrahepatic cholestasis caused by citrin deficiency |
Reversed | 0 |
HGVS | NC_000007.13:g.95818684_95818687delCATA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000006368.3, |