rs587777481
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777481(A;A) |
Make rs587777481(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 16 |
Position | 10538060 |
Gene | EMP2 |
is a | snp |
is | mentioned by |
dbSNP | rs587777481 |
dbSNP (classic) | rs587777481 |
ClinGen | rs587777481 |
ebi | rs587777481 |
HLI | rs587777481 |
Exac | rs587777481 |
Gnomad | rs587777481 |
Varsome | rs587777481 |
LitVar | rs587777481 |
Map | rs587777481 |
PheGenI | rs587777481 |
Biobank | rs587777481 |
1000 genomes | rs587777481 |
hgdp | rs587777481 |
ensembl | rs587777481 |
geneview | rs587777481 |
scholar | rs587777481 |
rs587777481 | |
pharmgkb | rs587777481 |
gwascentral | rs587777481 |
openSNP | rs587777481 |
23andMe | rs587777481 |
SNPshot | rs587777481 |
SNPdbe | rs587777481 |
MSV3d | rs587777481 |
GWAS Ctlg | rs587777481 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777481(A;A) Rs587777481(G;G) |
Alt | rs587777481(A;A) Rs587777481(G;G) |
Reference | Rs587777481(C;C) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | EMP2 |
CLNDBN | Nephrotic syndrome, type 10 |
Reversed | 1 |
HGVS | NC_000016.9:g.10631917G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128430.3, |