rs201697532
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201697532(C;T) |
Make rs201697532(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 227311838 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs201697532 |
dbSNP (classic) | rs201697532 |
ClinGen | rs201697532 |
ebi | rs201697532 |
HLI | rs201697532 |
Exac | rs201697532 |
Gnomad | rs201697532 |
Varsome | rs201697532 |
LitVar | rs201697532 |
Map | rs201697532 |
PheGenI | rs201697532 |
Biobank | rs201697532 |
1000 genomes | rs201697532 |
hgdp | rs201697532 |
ensembl | rs201697532 |
geneview | rs201697532 |
scholar | rs201697532 |
rs201697532 | |
pharmgkb | rs201697532 |
gwascentral | rs201697532 |
openSNP | rs201697532 |
23andMe | rs201697532 |
SNPshot | rs201697532 |
SNPdbe | rs201697532 |
MSV3d | rs201697532 |
GWAS Ctlg | rs201697532 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201697532(T;T) |
Alt | rs201697532(T;T) |
Reference | Rs201697532(C;C) |
Significance | Probable-Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome, autosomal recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.228176554C>T |
CLNSRC | |
CLNACC | RCV000283598.1, |