rs397515494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs397515494(-;T) |
Make rs397515494(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 108695116 |
Gene | COL4A5 |
is a | snp |
is | mentioned by |
dbSNP | rs397515494 |
dbSNP (classic) | rs397515494 |
ClinGen | rs397515494 |
ebi | rs397515494 |
HLI | rs397515494 |
Exac | rs397515494 |
Gnomad | rs397515494 |
Varsome | rs397515494 |
LitVar | rs397515494 |
Map | rs397515494 |
PheGenI | rs397515494 |
Biobank | rs397515494 |
1000 genomes | rs397515494 |
hgdp | rs397515494 |
ensembl | rs397515494 |
geneview | rs397515494 |
scholar | rs397515494 |
rs397515494 | |
pharmgkb | rs397515494 |
gwascentral | rs397515494 |
openSNP | rs397515494 |
23andMe | rs397515494 |
SNPshot | rs397515494 |
SNPdbe | rs397515494 |
MSV3d | rs397515494 |
GWAS Ctlg | rs397515494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397515494(T;T) |
Alt | rs397515494(T;T) |
Reference | Rs397515494(-;-) |
Significance | Pathogenic |
Disease | Alport syndrome |
Variation | info |
Gene | COL4A5 |
CLNDBN | Alport syndrome, X-linked recessive |
Reversed | 0 |
HGVS | NC_000023.10:g.107938346_107938347insT |
CLNSRC | ClinVar |
CLNACC | RCV000021656.1, |