rs781368899
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
(G;G) | 0 | common in clinvar |
Make rs781368899(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 6 |
Position | 51659907 |
Gene | LOC105375087, PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs781368899 |
dbSNP (classic) | rs781368899 |
ClinGen | rs781368899 |
ebi | rs781368899 |
HLI | rs781368899 |
Exac | rs781368899 |
Gnomad | rs781368899 |
Varsome | rs781368899 |
LitVar | rs781368899 |
Map | rs781368899 |
PheGenI | rs781368899 |
Biobank | rs781368899 |
1000 genomes | rs781368899 |
hgdp | rs781368899 |
ensembl | rs781368899 |
geneview | rs781368899 |
scholar | rs781368899 |
rs781368899 | |
pharmgkb | rs781368899 |
gwascentral | rs781368899 |
openSNP | rs781368899 |
23andMe | rs781368899 |
SNPshot | rs781368899 |
SNPdbe | rs781368899 |
MSV3d | rs781368899 |
GWAS Ctlg | rs781368899 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs781368899(A;A) |
Alt | rs781368899(A;A) |
Reference | Rs781368899(G;G) |
Significance | Pathogenic |
Disease | Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease |
Reversed | 0 |
HGVS | NC_000006.11:g.51524705G>A |
CLNSRC | |
CLNACC | RCV000179595.1, |