rs763939668
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs763939668(C;C) |
Make rs763939668(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 6009013 |
Gene | AIMP2, PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs763939668 |
dbSNP (classic) | rs763939668 |
ClinGen | rs763939668 |
ebi | rs763939668 |
HLI | rs763939668 |
Exac | rs763939668 |
Gnomad | rs763939668 |
Varsome | rs763939668 |
LitVar | rs763939668 |
Map | rs763939668 |
PheGenI | rs763939668 |
Biobank | rs763939668 |
1000 genomes | rs763939668 |
hgdp | rs763939668 |
ensembl | rs763939668 |
geneview | rs763939668 |
scholar | rs763939668 |
rs763939668 | |
pharmgkb | rs763939668 |
gwascentral | rs763939668 |
openSNP | rs763939668 |
23andMe | rs763939668 |
SNPshot | rs763939668 |
SNPdbe | rs763939668 |
MSV3d | rs763939668 |
GWAS Ctlg | rs763939668 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs763939668(A;A) rs763939668(C;C) |
Alt | rs763939668(A;A) rs763939668(C;C) |
Reference | Rs763939668(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | AIMP2 PMS2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000007.13:g.6048644G>A |
CLNSRC | |
CLNACC | RCV000222827.1, |