rs765661521
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs765661521(A;A) |
Make rs765661521(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 227303110 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs765661521 |
dbSNP (classic) | rs765661521 |
ClinGen | rs765661521 |
ebi | rs765661521 |
HLI | rs765661521 |
Exac | rs765661521 |
Gnomad | rs765661521 |
Varsome | rs765661521 |
LitVar | rs765661521 |
Map | rs765661521 |
PheGenI | rs765661521 |
Biobank | rs765661521 |
1000 genomes | rs765661521 |
hgdp | rs765661521 |
ensembl | rs765661521 |
geneview | rs765661521 |
scholar | rs765661521 |
rs765661521 | |
pharmgkb | rs765661521 |
gwascentral | rs765661521 |
openSNP | rs765661521 |
23andMe | rs765661521 |
SNPshot | rs765661521 |
SNPdbe | rs765661521 |
MSV3d | rs765661521 |
GWAS Ctlg | rs765661521 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765661521(A;A) rs765661521(C;C) |
Alt | rs765661521(A;A) rs765661521(C;C) |
Reference | Rs765661521(G;G) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome, autosomal recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.228167826G>A |
CLNSRC | |
CLNACC | RCV000415440.1, |