rs387906578
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;T) | 3 | Carrier for a renal tubular dysgenesis mutation |
(T;T) | 0 | common in clinvar |
Make rs387906578(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 230703309 |
Gene | AGT |
is a | snp |
is | mentioned by |
dbSNP | rs387906578 |
dbSNP (classic) | rs387906578 |
ClinGen | rs387906578 |
ebi | rs387906578 |
HLI | rs387906578 |
Exac | rs387906578 |
Gnomad | rs387906578 |
Varsome | rs387906578 |
LitVar | rs387906578 |
Map | rs387906578 |
PheGenI | rs387906578 |
Biobank | rs387906578 |
1000 genomes | rs387906578 |
hgdp | rs387906578 |
ensembl | rs387906578 |
geneview | rs387906578 |
scholar | rs387906578 |
rs387906578 | |
pharmgkb | rs387906578 |
gwascentral | rs387906578 |
openSNP | rs387906578 |
23andMe | rs387906578 |
SNPshot | rs387906578 |
SNPdbe | rs387906578 |
MSV3d | rs387906578 |
GWAS Ctlg | rs387906578 |
Max Magnitude | 3 |
see OMIM 106150.0005
ClinVar | |
---|---|
Risk | rs387906578(-;-) |
Alt | rs387906578(-;-) |
Reference | Rs387906578(T;T) |
Significance | Pathogenic |
Disease | Renal dysplasia |
Variation | info |
Gene | AGT |
CLNDBN | Renal dysplasia |
Reversed | 1 |
HGVS | NC_000001.10:g.230839055delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019698.29, |