rs760462252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs760462252(C;T) |
Make rs760462252(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 227307839 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs760462252 |
dbSNP (classic) | rs760462252 |
ClinGen | rs760462252 |
ebi | rs760462252 |
HLI | rs760462252 |
Exac | rs760462252 |
Gnomad | rs760462252 |
Varsome | rs760462252 |
LitVar | rs760462252 |
Map | rs760462252 |
PheGenI | rs760462252 |
Biobank | rs760462252 |
1000 genomes | rs760462252 |
hgdp | rs760462252 |
ensembl | rs760462252 |
geneview | rs760462252 |
scholar | rs760462252 |
rs760462252 | |
pharmgkb | rs760462252 |
gwascentral | rs760462252 |
openSNP | rs760462252 |
23andMe | rs760462252 |
SNPshot | rs760462252 |
SNPdbe | rs760462252 |
MSV3d | rs760462252 |
GWAS Ctlg | rs760462252 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760462252(T;T) |
Alt | rs760462252(T;T) |
Reference | Rs760462252(C;C) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.228172555C>T |
CLNSRC | |
CLNACC | RCV000416721.1, |