rs778034451
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs778034451(A;A) |
Make rs778034451(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 227273117 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs778034451 |
dbSNP (classic) | rs778034451 |
ClinGen | rs778034451 |
ebi | rs778034451 |
HLI | rs778034451 |
Exac | rs778034451 |
Gnomad | rs778034451 |
Varsome | rs778034451 |
LitVar | rs778034451 |
Map | rs778034451 |
PheGenI | rs778034451 |
Biobank | rs778034451 |
1000 genomes | rs778034451 |
hgdp | rs778034451 |
ensembl | rs778034451 |
geneview | rs778034451 |
scholar | rs778034451 |
rs778034451 | |
pharmgkb | rs778034451 |
gwascentral | rs778034451 |
openSNP | rs778034451 |
23andMe | rs778034451 |
SNPshot | rs778034451 |
SNPdbe | rs778034451 |
MSV3d | rs778034451 |
GWAS Ctlg | rs778034451 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs778034451(A;A) |
Alt | rs778034451(A;A) |
Reference | Rs778034451(G;G) |
Significance | Probable-Pathogenic |
Disease | Alport syndrome Alport syndrome |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome Alport syndrome, autosomal recessive |
Reversed | 0 |
HGVS | NC_000002.11:g.228137833G>A |
CLNSRC | |
CLNACC | RCV000348330.1, RCV000449541.1, |