rs370474706
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370474706(C;T) |
Make rs370474706(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 227051141 |
Gene | COL4A4 |
is a | snp |
is | mentioned by |
dbSNP | rs370474706 |
dbSNP (classic) | rs370474706 |
ClinGen | rs370474706 |
ebi | rs370474706 |
HLI | rs370474706 |
Exac | rs370474706 |
Gnomad | rs370474706 |
Varsome | rs370474706 |
LitVar | rs370474706 |
Map | rs370474706 |
PheGenI | rs370474706 |
Biobank | rs370474706 |
1000 genomes | rs370474706 |
hgdp | rs370474706 |
ensembl | rs370474706 |
geneview | rs370474706 |
scholar | rs370474706 |
rs370474706 | |
pharmgkb | rs370474706 |
gwascentral | rs370474706 |
openSNP | rs370474706 |
23andMe | rs370474706 |
SNPshot | rs370474706 |
SNPdbe | rs370474706 |
MSV3d | rs370474706 |
GWAS Ctlg | rs370474706 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370474706(T;T) |
Alt | rs370474706(T;T) |
Reference | Rs370474706(C;C) |
Significance | Pathogenic |
Disease | Benign familial hematuria |
Variation | info |
Gene | COL4A4 |
CLNDBN | Benign familial hematuria |
Reversed | 0 |
HGVS | NC_000002.11:g.227915857C>T |
CLNSRC | |
CLNACC | RCV000207754.1, |