rs797045101
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
(T;T) | 0 | common/normal |
Make rs797045101(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 51748057 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045101 |
dbSNP (classic) | rs797045101 |
ClinGen | rs797045101 |
ebi | rs797045101 |
HLI | rs797045101 |
Exac | rs797045101 |
Gnomad | rs797045101 |
Varsome | rs797045101 |
LitVar | rs797045101 |
Map | rs797045101 |
PheGenI | rs797045101 |
Biobank | rs797045101 |
1000 genomes | rs797045101 |
hgdp | rs797045101 |
ensembl | rs797045101 |
geneview | rs797045101 |
scholar | rs797045101 |
rs797045101 | |
pharmgkb | rs797045101 |
gwascentral | rs797045101 |
openSNP | rs797045101 |
23andMe | rs797045101 |
SNPshot | rs797045101 |
SNPdbe | rs797045101 |
MSV3d | rs797045101 |
GWAS Ctlg | rs797045101 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs797045101(-;-) |
Alt | rs797045101(-;-) |
Reference | Rs797045101(T;T) |
Significance | Pathogenic |
Disease | Autosomal recessive polycystic kidney disease not provided |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease not provided |
Reversed | 1 |
HGVS | NC_000006.11:g.51612855delA |
CLNSRC | |
CLNACC | RCV000190615.1, RCV000223998.1, |