rs267608087
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;C) | 6 | Lynch syndrome, pathogenic mutation |
(A;A) | 0 | common in clinvar |
Make rs267608087(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47803508 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs267608087 |
dbSNP (classic) | rs267608087 |
ClinGen | rs267608087 |
ebi | rs267608087 |
HLI | rs267608087 |
Exac | rs267608087 |
Gnomad | rs267608087 |
Varsome | rs267608087 |
LitVar | rs267608087 |
Map | rs267608087 |
PheGenI | rs267608087 |
Biobank | rs267608087 |
1000 genomes | rs267608087 |
hgdp | rs267608087 |
ensembl | rs267608087 |
geneview | rs267608087 |
scholar | rs267608087 |
rs267608087 | |
pharmgkb | rs267608087 |
gwascentral | rs267608087 |
openSNP | rs267608087 |
23andMe | rs267608087 |
SNPshot | rs267608087 |
SNPdbe | rs267608087 |
MSV3d | rs267608087 |
GWAS Ctlg | rs267608087 |
Merged from | Rs748452299 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608087(C;C) rs267608087(CC;CC) |
Alt | rs267608087(C;C) rs267608087(CC;CC) |
Reference | Rs267608087(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5 |
Variation | info |
Gene | MSH6 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5 |
Reversed | 0 |
HGVS | NC_000002.11:g.48030646_48030647dup; NC_000002.11:g.48030647dupC |
CLNSRC | HGMD |
CLNACC | RCV000491666.1, RCV000074831.3, RCV000078312.6, RCV000115412.6, RCV000410401.1, |