rs805722
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | |
(T;T) | 0 | common in clinvar |
Make rs805722(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 104050642 |
Gene | COL17A1 |
is a | snp |
is | mentioned by |
dbSNP | rs805722 |
dbSNP (classic) | rs805722 |
ClinGen | rs805722 |
ebi | rs805722 |
HLI | rs805722 |
Exac | rs805722 |
Gnomad | rs805722 |
Varsome | rs805722 |
LitVar | rs805722 |
Map | rs805722 |
PheGenI | rs805722 |
Biobank | rs805722 |
1000 genomes | rs805722 |
hgdp | rs805722 |
ensembl | rs805722 |
geneview | rs805722 |
scholar | rs805722 |
rs805722 | |
pharmgkb | rs805722 |
gwascentral | rs805722 |
openSNP | rs805722 |
23andMe | rs805722 |
SNPshot | rs805722 |
SNPdbe | rs805722 |
MSV3d | rs805722 |
GWAS Ctlg | rs805722 |
GMAF | 0.2755 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs805722(C;C) |
Alt | Rs805722(C;C) |
Reference | Rs805722(T;T) |
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.105810400T>C |
CLNSRC | |
CLNACC | RCV000249875.1, RCV000390866.1, |
Categories:
- Is a snp
- In dbSNP
- SNPs on chromosome 10
- Has genotype
- Has population
- On chip 23andMe v1
- On chip 23andMe v2
- On chip 23andMe v3
- On chip 23andMe v4
- On chip Affy GenomeWide 6
- On chip Affy500k
- On chip Ancestry v2
- On chip HumanOmni1Quad
- On chip Illumina Human 1M
- On chip 23andMe v5
- On chip Ancestry v2c
- On chip Ancestry v2d