rs180675584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
Make rs180675584(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 51934319 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs180675584 |
dbSNP (classic) | rs180675584 |
ClinGen | rs180675584 |
ebi | rs180675584 |
HLI | rs180675584 |
Exac | rs180675584 |
Gnomad | rs180675584 |
Varsome | rs180675584 |
LitVar | rs180675584 |
Map | rs180675584 |
PheGenI | rs180675584 |
Biobank | rs180675584 |
1000 genomes | rs180675584 |
hgdp | rs180675584 |
ensembl | rs180675584 |
geneview | rs180675584 |
scholar | rs180675584 |
rs180675584 | |
pharmgkb | rs180675584 |
gwascentral | rs180675584 |
openSNP | rs180675584 |
23andMe | rs180675584 |
SNPshot | rs180675584 |
SNPdbe | rs180675584 |
MSV3d | rs180675584 |
GWAS Ctlg | rs180675584 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs180675584(T;T) |
Alt | rs180675584(T;T) |
Reference | Rs180675584(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PKHD1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.51799117C>T |
CLNSRC | |
CLNACC | RCV000440845.1, |