rs771943519
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATGAGT;ATGAGT) | 0 | common in clinvar |
Make rs771943519(-;-) |
Make rs771943519(-;ATGAGT) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 227144544 |
Gene | COL4A4 |
is a | snp |
is | mentioned by |
dbSNP | rs771943519 |
dbSNP (classic) | rs771943519 |
ClinGen | rs771943519 |
ebi | rs771943519 |
HLI | rs771943519 |
Exac | rs771943519 |
Gnomad | rs771943519 |
Varsome | rs771943519 |
LitVar | rs771943519 |
Map | rs771943519 |
PheGenI | rs771943519 |
Biobank | rs771943519 |
1000 genomes | rs771943519 |
hgdp | rs771943519 |
ensembl | rs771943519 |
geneview | rs771943519 |
scholar | rs771943519 |
rs771943519 | |
pharmgkb | rs771943519 |
gwascentral | rs771943519 |
openSNP | rs771943519 |
23andMe | rs771943519 |
SNPshot | rs771943519 |
SNPdbe | rs771943519 |
MSV3d | rs771943519 |
GWAS Ctlg | rs771943519 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs771943519(-;-) |
Alt | rs771943519(-;-) |
Reference | Rs771943519(ATGAGT;ATGAGT) |
Significance | Probable-Pathogenic |
Disease | Alport syndrome not specified |
Variation | info |
Gene | COL4A4 |
CLNDBN | Alport syndrome, autosomal dominant not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.228009260_228009265delATGAGT |
CLNSRC | |
CLNACC | RCV000408829.1, RCV000483576.1, |