rs786204688
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
Make rs786204688(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 51748297 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204688 |
dbSNP (classic) | rs786204688 |
ClinGen | rs786204688 |
ebi | rs786204688 |
HLI | rs786204688 |
Exac | rs786204688 |
Gnomad | rs786204688 |
Varsome | rs786204688 |
LitVar | rs786204688 |
Map | rs786204688 |
PheGenI | rs786204688 |
Biobank | rs786204688 |
1000 genomes | rs786204688 |
hgdp | rs786204688 |
ensembl | rs786204688 |
geneview | rs786204688 |
scholar | rs786204688 |
rs786204688 | |
pharmgkb | rs786204688 |
gwascentral | rs786204688 |
openSNP | rs786204688 |
23andMe | rs786204688 |
SNPshot | rs786204688 |
SNPdbe | rs786204688 |
MSV3d | rs786204688 |
GWAS Ctlg | rs786204688 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs786204688(T;T) |
Alt | rs786204688(T;T) |
Reference | Rs786204688(C;C) |
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.51613095G>A |
CLNSRC | |
CLNACC | RCV000169496.2, |