rs200672668
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs200672668(A;A) |
Make rs200672668(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 227273108 |
Gene | COL4A3, LOC654841 |
is a | snp |
is | mentioned by |
dbSNP | rs200672668 |
dbSNP (classic) | rs200672668 |
ClinGen | rs200672668 |
ebi | rs200672668 |
HLI | rs200672668 |
Exac | rs200672668 |
Gnomad | rs200672668 |
Varsome | rs200672668 |
LitVar | rs200672668 |
Map | rs200672668 |
PheGenI | rs200672668 |
Biobank | rs200672668 |
1000 genomes | rs200672668 |
hgdp | rs200672668 |
ensembl | rs200672668 |
geneview | rs200672668 |
scholar | rs200672668 |
rs200672668 | |
pharmgkb | rs200672668 |
gwascentral | rs200672668 |
openSNP | rs200672668 |
23andMe | rs200672668 |
SNPshot | rs200672668 |
SNPdbe | rs200672668 |
MSV3d | rs200672668 |
GWAS Ctlg | rs200672668 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200672668(A;A) |
Alt | rs200672668(A;A) |
Reference | Rs200672668(G;G) |
Significance | Probable-Pathogenic |
Disease | Alport syndrome not provided |
Variation | info |
Gene | COL4A3 LOC654841 |
CLNDBN | Alport syndrome, autosomal recessive not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.228137824G>A |
CLNSRC | |
CLNACC | RCV000410611.1, RCV000489873.1, |