rs777183511
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
(T;T) | 0 | common/normal |
Make rs777183511(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 6 |
Position | 52050167 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs777183511 |
dbSNP (classic) | rs777183511 |
ClinGen | rs777183511 |
ebi | rs777183511 |
HLI | rs777183511 |
Exac | rs777183511 |
Gnomad | rs777183511 |
Varsome | rs777183511 |
LitVar | rs777183511 |
Map | rs777183511 |
PheGenI | rs777183511 |
Biobank | rs777183511 |
1000 genomes | rs777183511 |
hgdp | rs777183511 |
ensembl | rs777183511 |
geneview | rs777183511 |
scholar | rs777183511 |
rs777183511 | |
pharmgkb | rs777183511 |
gwascentral | rs777183511 |
openSNP | rs777183511 |
23andMe | rs777183511 |
SNPshot | rs777183511 |
SNPdbe | rs777183511 |
MSV3d | rs777183511 |
GWAS Ctlg | rs777183511 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs777183511(C;C) rs777183511(G;G) |
Alt | rs777183511(C;C) rs777183511(G;G) |
Reference | Rs777183511(T;T) |
Significance | Unknown |
Disease | Autosomal recessive polycystic kidney disease not specified |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease not specified |
Reversed | 0 |
HGVS | NC_000006.11:g.51914965T>C; NC_000006.11:g.51914965T>G |
CLNSRC | |
CLNACC | RCV000472049.1, RCV000288236.1, RCV000317551.1, |