rs1057515571
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057515571(-;-) |
Make rs1057515571(-;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 7 |
Position | 5995591 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057515571 |
dbSNP (classic) | rs1057515571 |
ClinGen | rs1057515571 |
ebi | rs1057515571 |
HLI | rs1057515571 |
Exac | rs1057515571 |
Gnomad | rs1057515571 |
Varsome | rs1057515571 |
LitVar | rs1057515571 |
Map | rs1057515571 |
PheGenI | rs1057515571 |
Biobank | rs1057515571 |
1000 genomes | rs1057515571 |
hgdp | rs1057515571 |
ensembl | rs1057515571 |
geneview | rs1057515571 |
scholar | rs1057515571 |
rs1057515571 | |
pharmgkb | rs1057515571 |
gwascentral | rs1057515571 |
openSNP | rs1057515571 |
23andMe | rs1057515571 |
SNPshot | rs1057515571 |
SNPdbe | rs1057515571 |
MSV3d | rs1057515571 |
GWAS Ctlg | rs1057515571 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057515571(-;-) |
Alt | rs1057515571(-;-) |
Reference | Rs1057515571(G;G) |
Significance | Pathogenic |
Disease | Hereditary nonpolyposis colorectal cancer type 4 |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary nonpolyposis colorectal cancer type 4 |
Reversed | 1 |
HGVS | NC_000007.13:g.6035222delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009824.4, |