rs587779335
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TC;TC) | 0 | common in clinvar |
Make rs587779335(-;-) |
Make rs587779335(-;TC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 5978684 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs587779335 |
dbSNP (classic) | rs587779335 |
ClinGen | rs587779335 |
ebi | rs587779335 |
HLI | rs587779335 |
Exac | rs587779335 |
Gnomad | rs587779335 |
Varsome | rs587779335 |
LitVar | rs587779335 |
Map | rs587779335 |
PheGenI | rs587779335 |
Biobank | rs587779335 |
1000 genomes | rs587779335 |
hgdp | rs587779335 |
ensembl | rs587779335 |
geneview | rs587779335 |
scholar | rs587779335 |
rs587779335 | |
pharmgkb | rs587779335 |
gwascentral | rs587779335 |
openSNP | rs587779335 |
23andMe | rs587779335 |
SNPshot | rs587779335 |
SNPdbe | rs587779335 |
MSV3d | rs587779335 |
GWAS Ctlg | rs587779335 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587779335(-;-) |
Alt | rs587779335(-;-) |
Reference | Rs587779335(TC;TC) |
Significance | Pathogenic |
Disease | Turcot syndrome Lynch syndrome I Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Turcot syndrome Lynch syndrome I Lynch syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.6018315_6018316delGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009819.4, RCV000172821.2, RCV000365642.1, |