rs863224528
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
Make rs863224528(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 51868035 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224528 |
dbSNP (classic) | rs863224528 |
ClinGen | rs863224528 |
ebi | rs863224528 |
HLI | rs863224528 |
Exac | rs863224528 |
Gnomad | rs863224528 |
Varsome | rs863224528 |
LitVar | rs863224528 |
Map | rs863224528 |
PheGenI | rs863224528 |
Biobank | rs863224528 |
1000 genomes | rs863224528 |
hgdp | rs863224528 |
ensembl | rs863224528 |
geneview | rs863224528 |
scholar | rs863224528 |
rs863224528 | |
pharmgkb | rs863224528 |
gwascentral | rs863224528 |
openSNP | rs863224528 |
23andMe | rs863224528 |
SNPshot | rs863224528 |
SNPdbe | rs863224528 |
MSV3d | rs863224528 |
GWAS Ctlg | rs863224528 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs863224528(T;T) |
Alt | rs863224528(T;T) |
Reference | Rs863224528(-;-) |
Significance | Pathogenic |
Disease | Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease |
Reversed | 1 |
HGVS | NC_000006.11:g.51732834dupA |
CLNSRC | |
CLNACC | RCV000200756.1, |