rs267606744
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606744(C;C) |
Make rs267606744(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 110192258 |
Gene | COL4A1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606744 |
dbSNP (classic) | rs267606744 |
ClinGen | rs267606744 |
ebi | rs267606744 |
HLI | rs267606744 |
Exac | rs267606744 |
Gnomad | rs267606744 |
Varsome | rs267606744 |
LitVar | rs267606744 |
Map | rs267606744 |
PheGenI | rs267606744 |
Biobank | rs267606744 |
1000 genomes | rs267606744 |
hgdp | rs267606744 |
ensembl | rs267606744 |
geneview | rs267606744 |
scholar | rs267606744 |
rs267606744 | |
pharmgkb | rs267606744 |
gwascentral | rs267606744 |
openSNP | rs267606744 |
23andMe | rs267606744 |
SNPshot | rs267606744 |
SNPdbe | rs267606744 |
MSV3d | rs267606744 |
GWAS Ctlg | rs267606744 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606744(C;C) |
Alt | rs267606744(C;C) |
Reference | Rs267606744(G;G) |
Significance | Pathogenic |
Disease | Angiopathy |
Variation | info |
Gene | COL4A1 |
CLNDBN | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps |
Reversed | 1 |
HGVS | NC_000013.10:g.110844605C>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018966.28, |