rs746972457
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
(G;G) | 0 | common in clinvar |
Make rs746972457(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 52026044 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs746972457 |
dbSNP (classic) | rs746972457 |
ClinGen | rs746972457 |
ebi | rs746972457 |
HLI | rs746972457 |
Exac | rs746972457 |
Gnomad | rs746972457 |
Varsome | rs746972457 |
LitVar | rs746972457 |
Map | rs746972457 |
PheGenI | rs746972457 |
Biobank | rs746972457 |
1000 genomes | rs746972457 |
hgdp | rs746972457 |
ensembl | rs746972457 |
geneview | rs746972457 |
scholar | rs746972457 |
rs746972457 | |
pharmgkb | rs746972457 |
gwascentral | rs746972457 |
openSNP | rs746972457 |
23andMe | rs746972457 |
SNPshot | rs746972457 |
SNPdbe | rs746972457 |
MSV3d | rs746972457 |
GWAS Ctlg | rs746972457 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs746972457(-;-) |
Alt | rs746972457(-;-) |
Reference | Rs746972457(G;G) |
Significance | Other |
Disease | Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease |
Reversed | 0 |
HGVS | NC_000006.11:g.51890842delG |
CLNSRC | |
CLNACC | RCV000169060.2, |