rs606231369
From SNPedia
Merged into | rs104886419 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs606231369(-;C) |
Make rs606231369(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 108571814 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs606231369 |
dbSNP (classic) | rs606231369 |
ClinGen | rs606231369 |
ebi | rs606231369 |
HLI | rs606231369 |
Exac | rs606231369 |
Gnomad | rs606231369 |
Varsome | rs606231369 |
LitVar | rs606231369 |
Map | rs606231369 |
PheGenI | rs606231369 |
Biobank | rs606231369 |
1000 genomes | rs606231369 |
hgdp | rs606231369 |
ensembl | rs606231369 |
geneview | rs606231369 |
scholar | rs606231369 |
rs606231369 | |
pharmgkb | rs606231369 |
gwascentral | rs606231369 |
openSNP | rs606231369 |
23andMe | rs606231369 |
SNPshot | rs606231369 |
SNPdbe | rs606231369 |
MSV3d | rs606231369 |
GWAS Ctlg | rs606231369 |
Status | Merged into rs104886419 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231369(C;C) |
Alt | rs606231369(C;C) |
Reference | Rs606231369(;) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107815044dupC |
CLNSRC | |
CLNACC | RCV000021151.1, |