rs886039224
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs886039224(A;T) |
Make rs886039224(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 19 |
Position | 45414887 |
Gene | ERCC1 |
is a | snp |
is | mentioned by |
dbSNP | rs886039224 |
dbSNP (classic) | rs886039224 |
ClinGen | rs886039224 |
ebi | rs886039224 |
HLI | rs886039224 |
Exac | rs886039224 |
Gnomad | rs886039224 |
Varsome | rs886039224 |
LitVar | rs886039224 |
Map | rs886039224 |
PheGenI | rs886039224 |
Biobank | rs886039224 |
1000 genomes | rs886039224 |
hgdp | rs886039224 |
ensembl | rs886039224 |
geneview | rs886039224 |
scholar | rs886039224 |
rs886039224 | |
pharmgkb | rs886039224 |
gwascentral | rs886039224 |
openSNP | rs886039224 |
23andMe | rs886039224 |
SNPshot | rs886039224 |
SNPdbe | rs886039224 |
MSV3d | rs886039224 |
GWAS Ctlg | rs886039224 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs886039224(T;T) |
Alt | rs886039224(T;T) |
Reference | Rs886039224(A;A) |
Significance | Pathogenic |
Disease | Cockayne syndrome |
Variation | info |
Gene | ERCC1 |
CLNDBN | Cockayne syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.45918145T>A |
CLNSRC | |
CLNACC | RCV000247362.1, |