rs770461067
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
(A;A) | 0 | common/normal |
Make rs770461067(-;-) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 51659489 |
Gene | LOC105375087, PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs770461067 |
dbSNP (classic) | rs770461067 |
ClinGen | rs770461067 |
ebi | rs770461067 |
HLI | rs770461067 |
Exac | rs770461067 |
Gnomad | rs770461067 |
Varsome | rs770461067 |
LitVar | rs770461067 |
Map | rs770461067 |
PheGenI | rs770461067 |
Biobank | rs770461067 |
1000 genomes | rs770461067 |
hgdp | rs770461067 |
ensembl | rs770461067 |
geneview | rs770461067 |
scholar | rs770461067 |
rs770461067 | |
pharmgkb | rs770461067 |
gwascentral | rs770461067 |
openSNP | rs770461067 |
23andMe | rs770461067 |
SNPshot | rs770461067 |
SNPdbe | rs770461067 |
MSV3d | rs770461067 |
GWAS Ctlg | rs770461067 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs770461067(-;-) |
Alt | rs770461067(-;-) |
Reference | Rs770461067(A;A) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | PKHD1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.51524287delA |
CLNSRC | |
CLNACC | RCV000308290.1, |