rs375040636
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs375040636(A;A) |
Make rs375040636(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 227279882 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs375040636 |
dbSNP (classic) | rs375040636 |
ClinGen | rs375040636 |
ebi | rs375040636 |
HLI | rs375040636 |
Exac | rs375040636 |
Gnomad | rs375040636 |
Varsome | rs375040636 |
LitVar | rs375040636 |
Map | rs375040636 |
PheGenI | rs375040636 |
Biobank | rs375040636 |
1000 genomes | rs375040636 |
hgdp | rs375040636 |
ensembl | rs375040636 |
geneview | rs375040636 |
scholar | rs375040636 |
rs375040636 | |
pharmgkb | rs375040636 |
gwascentral | rs375040636 |
openSNP | rs375040636 |
23andMe | rs375040636 |
SNPshot | rs375040636 |
SNPdbe | rs375040636 |
MSV3d | rs375040636 |
GWAS Ctlg | rs375040636 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs375040636(A;A) |
Alt | rs375040636(A;A) |
Reference | Rs375040636(G;G) |
Significance | Probable-Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome, autosomal recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.228144598G>A |
CLNSRC | |
CLNACC | RCV000411680.1, |