rs144282156
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144282156(C;T) |
Make rs144282156(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 108686096 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs144282156 |
dbSNP (classic) | rs144282156 |
ClinGen | rs144282156 |
ebi | rs144282156 |
HLI | rs144282156 |
Exac | rs144282156 |
Gnomad | rs144282156 |
Varsome | rs144282156 |
LitVar | rs144282156 |
Map | rs144282156 |
PheGenI | rs144282156 |
Biobank | rs144282156 |
1000 genomes | rs144282156 |
hgdp | rs144282156 |
ensembl | rs144282156 |
geneview | rs144282156 |
scholar | rs144282156 |
rs144282156 | |
pharmgkb | rs144282156 |
gwascentral | rs144282156 |
openSNP | rs144282156 |
23andMe | rs144282156 |
SNPshot | rs144282156 |
SNPdbe | rs144282156 |
MSV3d | rs144282156 |
GWAS Ctlg | rs144282156 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144282156(T;T) |
Alt | rs144282156(T;T) |
Reference | Rs144282156(C;C) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107929326C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011210.4, |