rs146649803
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs146649803(A;A) |
Make rs146649803(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 51747897 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs146649803 |
dbSNP (classic) | rs146649803 |
ClinGen | rs146649803 |
ebi | rs146649803 |
HLI | rs146649803 |
Exac | rs146649803 |
Gnomad | rs146649803 |
Varsome | rs146649803 |
LitVar | rs146649803 |
Map | rs146649803 |
PheGenI | rs146649803 |
Biobank | rs146649803 |
1000 genomes | rs146649803 |
hgdp | rs146649803 |
ensembl | rs146649803 |
geneview | rs146649803 |
scholar | rs146649803 |
rs146649803 | |
pharmgkb | rs146649803 |
gwascentral | rs146649803 |
openSNP | rs146649803 |
23andMe | rs146649803 |
SNPshot | rs146649803 |
SNPdbe | rs146649803 |
MSV3d | rs146649803 |
GWAS Ctlg | rs146649803 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146649803(A;A) rs146649803(T;T) |
Alt | rs146649803(A;A) rs146649803(T;T) |
Reference | Rs146649803(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | not specified Autosomal recessive polycystic kidney disease |
Reversed | 0 |
HGVS | NC_000006.11:g.51612695C>A |
CLNSRC | HGMD |
CLNACC | RCV000153706.3, RCV000200664.1, |