rs805698
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs805698(C;T) |
Make rs805698(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 104057158 |
Gene | COL17A1 |
is a | snp |
is | mentioned by |
dbSNP | rs805698 |
dbSNP (classic) | rs805698 |
ClinGen | rs805698 |
ebi | rs805698 |
HLI | rs805698 |
Exac | rs805698 |
Gnomad | rs805698 |
Varsome | rs805698 |
LitVar | rs805698 |
Map | rs805698 |
PheGenI | rs805698 |
Biobank | rs805698 |
1000 genomes | rs805698 |
hgdp | rs805698 |
ensembl | rs805698 |
geneview | rs805698 |
scholar | rs805698 |
rs805698 | |
pharmgkb | rs805698 |
gwascentral | rs805698 |
openSNP | rs805698 |
23andMe | rs805698 |
SNPshot | rs805698 |
SNPdbe | rs805698 |
MSV3d | rs805698 |
GWAS Ctlg | rs805698 |
GMAF | 0.1589 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs805698(T;T) |
Alt | rs805698(T;T) |
Reference | Rs805698(C;C) |
Significance | Non-pathogenic |
Disease | not specified Epidermolysis bullosa |
Variation | info |
Gene | COL17A1 |
CLNDBN | not specified Epidermolysis bullosa, junctional |
Reversed | 0 |
HGVS | NC_000010.10:g.105816916C>T |
CLNSRC | |
CLNACC | RCV000244902.1, RCV000344715.1, |