rs1064792902
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAAAGACACTGAAGCTAA;AAAAGACACTGAAGCTAA) | 0 | common in clinvar |
Chromosome | 2 |
Position | 227311867 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs1064792902 |
dbSNP (classic) | rs1064792902 |
ClinGen | rs1064792902 |
ebi | rs1064792902 |
HLI | rs1064792902 |
Exac | rs1064792902 |
Gnomad | rs1064792902 |
Varsome | rs1064792902 |
LitVar | rs1064792902 |
Map | rs1064792902 |
PheGenI | rs1064792902 |
Biobank | rs1064792902 |
1000 genomes | rs1064792902 |
hgdp | rs1064792902 |
ensembl | rs1064792902 |
geneview | rs1064792902 |
scholar | rs1064792902 |
rs1064792902 | |
pharmgkb | rs1064792902 |
gwascentral | rs1064792902 |
openSNP | rs1064792902 |
23andMe | rs1064792902 |
SNPshot | rs1064792902 |
SNPdbe | rs1064792902 |
MSV3d | rs1064792902 |
GWAS Ctlg | rs1064792902 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064792902(-;-) |
Alt | rs1064792902(-;-) |
Reference | Rs1064792902(AAAAGACACTGAAGCTAA;AAAAGACACTGAAGCTAA) |
Significance | Probable-Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.228176583_228176600del18 |
CLNSRC | |
CLNACC | RCV000449534.1, |