rs786205548
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786205548(A;T) |
Make rs786205548(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 227033407 |
Gene | COL4A4 |
is a | snp |
is | mentioned by |
dbSNP | rs786205548 |
dbSNP (classic) | rs786205548 |
ClinGen | rs786205548 |
ebi | rs786205548 |
HLI | rs786205548 |
Exac | rs786205548 |
Gnomad | rs786205548 |
Varsome | rs786205548 |
LitVar | rs786205548 |
Map | rs786205548 |
PheGenI | rs786205548 |
Biobank | rs786205548 |
1000 genomes | rs786205548 |
hgdp | rs786205548 |
ensembl | rs786205548 |
geneview | rs786205548 |
scholar | rs786205548 |
rs786205548 | |
pharmgkb | rs786205548 |
gwascentral | rs786205548 |
openSNP | rs786205548 |
23andMe | rs786205548 |
SNPshot | rs786205548 |
SNPdbe | rs786205548 |
MSV3d | rs786205548 |
GWAS Ctlg | rs786205548 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205548(T;T) |
Alt | rs786205548(T;T) |
Reference | Rs786205548(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL4A4 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000002.11:g.227898123T>A |
CLNSRC | |
CLNACC | RCV000171334.1, |