rs74315430
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315430(A;A) |
Make rs74315430(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 64048601 |
Gene | SOX18, TCEA2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315430 |
dbSNP (classic) | rs74315430 |
ClinGen | rs74315430 |
ebi | rs74315430 |
HLI | rs74315430 |
Exac | rs74315430 |
Gnomad | rs74315430 |
Varsome | rs74315430 |
LitVar | rs74315430 |
Map | rs74315430 |
PheGenI | rs74315430 |
Biobank | rs74315430 |
1000 genomes | rs74315430 |
hgdp | rs74315430 |
ensembl | rs74315430 |
geneview | rs74315430 |
scholar | rs74315430 |
rs74315430 | |
pharmgkb | rs74315430 |
gwascentral | rs74315430 |
openSNP | rs74315430 |
23andMe | rs74315430 |
SNPshot | rs74315430 |
SNPdbe | rs74315430 |
MSV3d | rs74315430 |
GWAS Ctlg | rs74315430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315430(A;A) |
Alt | rs74315430(A;A) |
Reference | Rs74315430(C;C) |
Significance | Pathogenic |
Disease | Glomerulonephritis with sparse hair and telangiectases |
Variation | info |
Gene | SOX18 |
CLNDBN | Glomerulonephritis with sparse hair and telangiectases |
Reversed | 1 |
HGVS | NC_000020.10:g.62679954G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008466.3, |