rs267608120
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CAAG) | 6 | Lynch syndrome, pathogenic mutation |
(AAGC;AAGC) | 0 | common in clinvar |
(CAAG;CAAG) | 0 | common in clinvar |
Make rs267608120(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47806609 |
Gene | FBXO11, MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs267608120 |
dbSNP (classic) | rs267608120 |
ClinGen | rs267608120 |
ebi | rs267608120 |
HLI | rs267608120 |
Exac | rs267608120 |
Gnomad | rs267608120 |
Varsome | rs267608120 |
LitVar | rs267608120 |
Map | rs267608120 |
PheGenI | rs267608120 |
Biobank | rs267608120 |
1000 genomes | rs267608120 |
hgdp | rs267608120 |
ensembl | rs267608120 |
geneview | rs267608120 |
scholar | rs267608120 |
rs267608120 | |
pharmgkb | rs267608120 |
gwascentral | rs267608120 |
openSNP | rs267608120 |
23andMe | rs267608120 |
SNPshot | rs267608120 |
SNPdbe | rs267608120 |
MSV3d | rs267608120 |
GWAS Ctlg | rs267608120 |
Merged from | Rs267608119 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608120(-;-) Rs267608120(AAGC;AAGC) rs267608120(GCAA;GCAA) |
Alt | rs267608120(-;-) Rs267608120(AAGC;AAGC) rs267608120(GCAA;GCAA) |
Reference | Rs267608120(CAAG;CAAG) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 5 not provided |
Variation | info |
Gene | FBXO11 MSH6 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 5 not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48033748_48033751delCAAG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074956.2, RCV000215904.2, RCV000411917.1, RCV000485556.1, |