rs201881567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common/normal |
(A;C) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
Make rs201881567(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 51883179 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs201881567 |
dbSNP (classic) | rs201881567 |
ClinGen | rs201881567 |
ebi | rs201881567 |
HLI | rs201881567 |
Exac | rs201881567 |
Gnomad | rs201881567 |
Varsome | rs201881567 |
LitVar | rs201881567 |
Map | rs201881567 |
PheGenI | rs201881567 |
Biobank | rs201881567 |
1000 genomes | rs201881567 |
hgdp | rs201881567 |
ensembl | rs201881567 |
geneview | rs201881567 |
scholar | rs201881567 |
rs201881567 | |
pharmgkb | rs201881567 |
gwascentral | rs201881567 |
openSNP | rs201881567 |
23andMe | rs201881567 |
SNPshot | rs201881567 |
SNPdbe | rs201881567 |
MSV3d | rs201881567 |
GWAS Ctlg | rs201881567 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs201881567(C;C) rs201881567(G;G) |
Alt | rs201881567(C;C) rs201881567(G;G) |
Reference | Rs201881567(A;A) |
Significance | Unknown |
Disease | Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease |
Reversed | 0 |
HGVS | NC_000006.11:g.51747977A>C |
CLNSRC | |
CLNACC | RCV000457585.1, |