rs863225414
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;ATTA) | 5 | possible Lynch syndrome mutation |
Make rs863225414(ATTA;ATTA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 47806501 |
Gene | FBXO11, MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs863225414 |
dbSNP (classic) | rs863225414 |
ClinGen | rs863225414 |
ebi | rs863225414 |
HLI | rs863225414 |
Exac | rs863225414 |
Gnomad | rs863225414 |
Varsome | rs863225414 |
LitVar | rs863225414 |
Map | rs863225414 |
PheGenI | rs863225414 |
Biobank | rs863225414 |
1000 genomes | rs863225414 |
hgdp | rs863225414 |
ensembl | rs863225414 |
geneview | rs863225414 |
scholar | rs863225414 |
rs863225414 | |
pharmgkb | rs863225414 |
gwascentral | rs863225414 |
openSNP | rs863225414 |
23andMe | rs863225414 |
SNPshot | rs863225414 |
SNPdbe | rs863225414 |
MSV3d | rs863225414 |
GWAS Ctlg | rs863225414 |
Max Magnitude | 5 |
c.3851_3852insATTA (p.Phe1285Leufs)
23andMe name: i5037831
ClinVar | |
---|---|
Risk | rs863225414(ATTA;ATTA) |
Alt | rs863225414(ATTA;ATTA) |
Reference | Rs863225414(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | FBXO11 MSH6 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48033640_48033641insATTA |
CLNSRC | |
CLNACC | RCV000201980.1, |