rs137852947
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of an autosomal recessive polycystic kidney disease mutation |
Make rs137852947(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 51847871 |
Gene | PKHD1 |
is a | snp |
is | mentioned by |
dbSNP | rs137852947 |
dbSNP (classic) | rs137852947 |
ClinGen | rs137852947 |
ebi | rs137852947 |
HLI | rs137852947 |
Exac | rs137852947 |
Gnomad | rs137852947 |
Varsome | rs137852947 |
LitVar | rs137852947 |
Map | rs137852947 |
PheGenI | rs137852947 |
Biobank | rs137852947 |
1000 genomes | rs137852947 |
hgdp | rs137852947 |
ensembl | rs137852947 |
geneview | rs137852947 |
scholar | rs137852947 |
rs137852947 | |
pharmgkb | rs137852947 |
gwascentral | rs137852947 |
openSNP | rs137852947 |
23andMe | rs137852947 |
SNPshot | rs137852947 |
SNPdbe | rs137852947 |
MSV3d | rs137852947 |
GWAS Ctlg | rs137852947 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs137852947(T;T) |
Alt | rs137852947(T;T) |
Reference | Rs137852947(C;C) |
Significance | Pathogenic |
Disease | Autosomal recessive polycystic kidney disease |
Variation | info |
Gene | PKHD1 |
CLNDBN | Autosomal recessive polycystic kidney disease |
Reversed | 1 |
HGVS | NC_000006.11:g.51712669G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000004328.2, |