rs1057518706
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1057518706(A;G) |
Make rs1057518706(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 48572667 |
Gene | COL7A1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057518706 |
dbSNP (classic) | rs1057518706 |
ClinGen | rs1057518706 |
ebi | rs1057518706 |
HLI | rs1057518706 |
Exac | rs1057518706 |
Gnomad | rs1057518706 |
Varsome | rs1057518706 |
LitVar | rs1057518706 |
Map | rs1057518706 |
PheGenI | rs1057518706 |
Biobank | rs1057518706 |
1000 genomes | rs1057518706 |
hgdp | rs1057518706 |
ensembl | rs1057518706 |
geneview | rs1057518706 |
scholar | rs1057518706 |
rs1057518706 | |
pharmgkb | rs1057518706 |
gwascentral | rs1057518706 |
openSNP | rs1057518706 |
23andMe | rs1057518706 |
SNPshot | rs1057518706 |
SNPdbe | rs1057518706 |
MSV3d | rs1057518706 |
GWAS Ctlg | rs1057518706 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057518706(G;G) |
Alt | rs1057518706(G;G) |
Reference | Rs1057518706(A;A) |
Significance | Pathogenic |
Disease | Generalized dominant dystrophic epidermolysis bullosa |
Variation | info |
Gene | COL7A1 |
CLNDBN | Generalized dominant dystrophic epidermolysis bullosa |
Reversed | 1 |
HGVS | NC_000003.11:g.48610100T>C |
CLNSRC | |
CLNACC | RCV000415126.1, |