rs397514690
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514690(C;T) |
Make rs397514690(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 204162135 |
Gene | REN |
is a | snp |
is | mentioned by |
dbSNP | rs397514690 |
dbSNP (classic) | rs397514690 |
ClinGen | rs397514690 |
ebi | rs397514690 |
HLI | rs397514690 |
Exac | rs397514690 |
Gnomad | rs397514690 |
Varsome | rs397514690 |
LitVar | rs397514690 |
Map | rs397514690 |
PheGenI | rs397514690 |
Biobank | rs397514690 |
1000 genomes | rs397514690 |
hgdp | rs397514690 |
ensembl | rs397514690 |
geneview | rs397514690 |
scholar | rs397514690 |
rs397514690 | |
pharmgkb | rs397514690 |
gwascentral | rs397514690 |
openSNP | rs397514690 |
23andMe | rs397514690 |
SNPshot | rs397514690 |
SNPdbe | rs397514690 |
MSV3d | rs397514690 |
GWAS Ctlg | rs397514690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514690(T;T) |
Alt | rs397514690(T;T) |
Reference | Rs397514690(C;C) |
Significance | Pathogenic |
Disease | Renal dysplasia |
Variation | info |
Gene | REN |
CLNDBN | Renal dysplasia |
Reversed | 1 |
HGVS | NC_000001.10:g.204131263G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043472.25, |