rs771180444
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
(TG;TG) | 0 | common in clinvar |
Make rs771180444(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 51959898 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs771180444 |
dbSNP (classic) | rs771180444 |
ClinGen | rs771180444 |
ebi | rs771180444 |
HLI | rs771180444 |
Exac | rs771180444 |
Gnomad | rs771180444 |
Varsome | rs771180444 |
LitVar | rs771180444 |
Map | rs771180444 |
PheGenI | rs771180444 |
Biobank | rs771180444 |
1000 genomes | rs771180444 |
hgdp | rs771180444 |
ensembl | rs771180444 |
geneview | rs771180444 |
scholar | rs771180444 |
rs771180444 | |
pharmgkb | rs771180444 |
gwascentral | rs771180444 |
openSNP | rs771180444 |
23andMe | rs771180444 |
SNPshot | rs771180444 |
SNPdbe | rs771180444 |
MSV3d | rs771180444 |
GWAS Ctlg | rs771180444 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs771180444(-;-) |
Alt | rs771180444(-;-) |
Reference | Rs771180444(TG;TG) |
Significance | Pathogenic |
Disease | Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease |
Reversed | 0 |
HGVS | NC_000006.11:g.51824696_51824697delTG |
CLNSRC | |
CLNACC | RCV000177891.1, |