rs3212989
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs3212989(C;C) |
Make rs3212989(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 45408812 |
Gene | CD3EAP, ERCC1 |
is a | snp |
is | mentioned by |
dbSNP | rs3212989 |
dbSNP (classic) | rs3212989 |
ClinGen | rs3212989 |
ebi | rs3212989 |
HLI | rs3212989 |
Exac | rs3212989 |
Gnomad | rs3212989 |
Varsome | rs3212989 |
LitVar | rs3212989 |
Map | rs3212989 |
PheGenI | rs3212989 |
Biobank | rs3212989 |
1000 genomes | rs3212989 |
hgdp | rs3212989 |
ensembl | rs3212989 |
geneview | rs3212989 |
scholar | rs3212989 |
rs3212989 | |
pharmgkb | rs3212989 |
gwascentral | rs3212989 |
openSNP | rs3212989 |
23andMe | rs3212989 |
SNPshot | rs3212989 |
SNPdbe | rs3212989 |
MSV3d | rs3212989 |
GWAS Ctlg | rs3212989 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs3212989(C;C) |
Alt | rs3212989(C;C) |
Reference | Rs3212989(T;T) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CD3EAP ERCC1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.45912070A>G |
CLNSRC | |
CLNACC | RCV000224631.1, |