rs63750767
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TCAAAAGGGACATAGAAAA) | 6 | Lynch syndrome, pathogenic mutation |
(I;I) | 0 |
Make rs63750767(TCAAAAGGGACATAGAAAA;TCAAAAGGGACATAGAAAA) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47806607 |
Gene | FBXO11, MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750767 |
dbSNP (classic) | rs63750767 |
ClinGen | rs63750767 |
ebi | rs63750767 |
HLI | rs63750767 |
Exac | rs63750767 |
Gnomad | rs63750767 |
Varsome | rs63750767 |
LitVar | rs63750767 |
Map | rs63750767 |
PheGenI | rs63750767 |
Biobank | rs63750767 |
1000 genomes | rs63750767 |
hgdp | rs63750767 |
ensembl | rs63750767 |
geneview | rs63750767 |
scholar | rs63750767 |
rs63750767 | |
pharmgkb | rs63750767 |
gwascentral | rs63750767 |
openSNP | rs63750767 |
23andMe | rs63750767 |
SNPshot | rs63750767 |
SNPdbe | rs63750767 |
MSV3d | rs63750767 |
GWAS Ctlg | rs63750767 |
Merged from | Rs763673818 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750767(TCAAAAGGGACATAGAAAA;TCAAAAGGGACATAGAAAA) |
Alt | rs63750767(TCAAAAGGGACATAGAAAA;TCAAAAGGGACATAGAAAA) |
Reference | Rs63750767(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome not provided |
Variation | info |
Gene | FBXO11 MSH6 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48033716_48033746dup; NC_000002.11:g.48033728_48033746dup19 |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000491557.1, RCV000074954.2, RCV000129554.6, RCV000202115.1, |