rs797044745
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(;) | 0 | common in clinvar |
(-;-) | 0 | common/normal |
(-;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
Make rs797044745(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 51867876 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs797044745 |
dbSNP (classic) | rs797044745 |
ClinGen | rs797044745 |
ebi | rs797044745 |
HLI | rs797044745 |
Exac | rs797044745 |
Gnomad | rs797044745 |
Varsome | rs797044745 |
LitVar | rs797044745 |
Map | rs797044745 |
PheGenI | rs797044745 |
Biobank | rs797044745 |
1000 genomes | rs797044745 |
hgdp | rs797044745 |
ensembl | rs797044745 |
geneview | rs797044745 |
scholar | rs797044745 |
rs797044745 | |
pharmgkb | rs797044745 |
gwascentral | rs797044745 |
openSNP | rs797044745 |
23andMe | rs797044745 |
SNPshot | rs797044745 |
SNPdbe | rs797044745 |
MSV3d | rs797044745 |
GWAS Ctlg | rs797044745 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797044745(T;T) |
Alt | rs797044745(T;T) |
Reference | Rs797044745(-;-) |
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.51732675dupA |
CLNSRC | |
CLNACC | RCV000178675.1, |