rs775251483
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs775251483(-;-) |
Make rs775251483(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 104034101 |
Gene | COL17A1 |
is a | snp |
is | mentioned by |
dbSNP | rs775251483 |
dbSNP (classic) | rs775251483 |
ClinGen | rs775251483 |
ebi | rs775251483 |
HLI | rs775251483 |
Exac | rs775251483 |
Gnomad | rs775251483 |
Varsome | rs775251483 |
LitVar | rs775251483 |
Map | rs775251483 |
PheGenI | rs775251483 |
Biobank | rs775251483 |
1000 genomes | rs775251483 |
hgdp | rs775251483 |
ensembl | rs775251483 |
geneview | rs775251483 |
scholar | rs775251483 |
rs775251483 | |
pharmgkb | rs775251483 |
gwascentral | rs775251483 |
openSNP | rs775251483 |
23andMe | rs775251483 |
SNPshot | rs775251483 |
SNPdbe | rs775251483 |
MSV3d | rs775251483 |
GWAS Ctlg | rs775251483 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775251483(-;-) |
Alt | rs775251483(-;-) |
Reference | Rs775251483(T;T) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL17A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.105793859delT |
CLNSRC | |
CLNACC | RCV000478207.1, |