rs754289857
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs754289857(C;T) |
Make rs754289857(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 104074232 |
Gene | COL17A1 |
is a | snp |
is | mentioned by |
dbSNP | rs754289857 |
dbSNP (classic) | rs754289857 |
ClinGen | rs754289857 |
ebi | rs754289857 |
HLI | rs754289857 |
Exac | rs754289857 |
Gnomad | rs754289857 |
Varsome | rs754289857 |
LitVar | rs754289857 |
Map | rs754289857 |
PheGenI | rs754289857 |
Biobank | rs754289857 |
1000 genomes | rs754289857 |
hgdp | rs754289857 |
ensembl | rs754289857 |
geneview | rs754289857 |
scholar | rs754289857 |
rs754289857 | |
pharmgkb | rs754289857 |
gwascentral | rs754289857 |
openSNP | rs754289857 |
23andMe | rs754289857 |
SNPshot | rs754289857 |
SNPdbe | rs754289857 |
MSV3d | rs754289857 |
GWAS Ctlg | rs754289857 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs754289857(T;T) |
Alt | rs754289857(T;T) |
Reference | Rs754289857(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL17A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.105833990C>T |
CLNSRC | |
CLNACC | RCV000432540.1, |