rs786204588
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;AATG) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
(AATG;AATG) | 0 | common in clinvar |
Make rs786204588(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 52069521 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204588 |
dbSNP (classic) | rs786204588 |
ClinGen | rs786204588 |
ebi | rs786204588 |
HLI | rs786204588 |
Exac | rs786204588 |
Gnomad | rs786204588 |
Varsome | rs786204588 |
LitVar | rs786204588 |
Map | rs786204588 |
PheGenI | rs786204588 |
Biobank | rs786204588 |
1000 genomes | rs786204588 |
hgdp | rs786204588 |
ensembl | rs786204588 |
geneview | rs786204588 |
scholar | rs786204588 |
rs786204588 | |
pharmgkb | rs786204588 |
gwascentral | rs786204588 |
openSNP | rs786204588 |
23andMe | rs786204588 |
SNPshot | rs786204588 |
SNPdbe | rs786204588 |
MSV3d | rs786204588 |
GWAS Ctlg | rs786204588 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs786204588(-;-) |
Alt | rs786204588(-;-) |
Reference | Rs786204588(AATG;AATG) |
Significance | Other |
Disease | Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease |
Reversed | 1 |
HGVS | NC_000006.11:g.51934319_51934322delCATT |
CLNSRC | |
CLNACC | RCV000169335.2, |