rs267608159
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6 | Lynch syndrome |
(-;AAA) | 6 | Lynch syndrome |
(AAA;AAA) | 0 | common in clinvar |
Make rs267608159(-;-) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 7 |
Position | 5987526 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs267608159 |
dbSNP (classic) | rs267608159 |
ClinGen | rs267608159 |
ebi | rs267608159 |
HLI | rs267608159 |
Exac | rs267608159 |
Gnomad | rs267608159 |
Varsome | rs267608159 |
LitVar | rs267608159 |
Map | rs267608159 |
PheGenI | rs267608159 |
Biobank | rs267608159 |
1000 genomes | rs267608159 |
hgdp | rs267608159 |
ensembl | rs267608159 |
geneview | rs267608159 |
scholar | rs267608159 |
rs267608159 | |
pharmgkb | rs267608159 |
gwascentral | rs267608159 |
openSNP | rs267608159 |
23andMe | rs267608159 |
SNPshot | rs267608159 |
SNPdbe | rs267608159 |
MSV3d | rs267608159 |
GWAS Ctlg | rs267608159 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608159(-;-) |
Alt | rs267608159(-;-) |
Reference | Rs267608159(AAA;AAA) |
Significance | Pathogenic |
Disease | Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6027157_6027159delTTT |
CLNSRC | OMIM Allelic Variant PMS2 @ LOVD |
CLNACC | RCV000009820.4, RCV000076803.2, |