rs144023803
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs144023803(A;A) |
Make rs144023803(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 48590721 |
Gene | COL7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs144023803 |
dbSNP (classic) | rs144023803 |
ClinGen | rs144023803 |
ebi | rs144023803 |
HLI | rs144023803 |
Exac | rs144023803 |
Gnomad | rs144023803 |
Varsome | rs144023803 |
LitVar | rs144023803 |
Map | rs144023803 |
PheGenI | rs144023803 |
Biobank | rs144023803 |
1000 genomes | rs144023803 |
hgdp | rs144023803 |
ensembl | rs144023803 |
geneview | rs144023803 |
scholar | rs144023803 |
rs144023803 | |
pharmgkb | rs144023803 |
gwascentral | rs144023803 |
openSNP | rs144023803 |
23andMe | rs144023803 |
SNPshot | rs144023803 |
SNPdbe | rs144023803 |
MSV3d | rs144023803 |
GWAS Ctlg | rs144023803 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144023803(A;A) |
Alt | rs144023803(A;A) |
Reference | Rs144023803(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL7A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.48628154G>A |
CLNSRC | |
CLNACC | RCV000413975.1, |