rs121908380
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 3 | Carrier of a MUTYH-related familial adenomatous polyposis mutation |
(C;C) | 0 | common in clinvar |
Make rs121908380(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 45333449 |
Gene | MUTYH |
is a | snp |
is | mentioned by |
dbSNP | rs121908380 |
dbSNP (classic) | rs121908380 |
ClinGen | rs121908380 |
ebi | rs121908380 |
HLI | rs121908380 |
Exac | rs121908380 |
Gnomad | rs121908380 |
Varsome | rs121908380 |
LitVar | rs121908380 |
Map | rs121908380 |
PheGenI | rs121908380 |
Biobank | rs121908380 |
1000 genomes | rs121908380 |
hgdp | rs121908380 |
ensembl | rs121908380 |
geneview | rs121908380 |
scholar | rs121908380 |
rs121908380 | |
pharmgkb | rs121908380 |
gwascentral | rs121908380 |
openSNP | rs121908380 |
23andMe | rs121908380 |
SNPshot | rs121908380 |
SNPdbe | rs121908380 |
MSV3d | rs121908380 |
GWAS Ctlg | rs121908380 |
GMAF | 0.0009183 |
Max Magnitude | 3 |
ClinVar | |
---|---|
Risk | rs121908380(A;A) rs121908380(T;T) |
Alt | rs121908380(A;A) rs121908380(T;T) |
Reference | Rs121908380(C;C) |
Significance | Pathogenic |
Disease | MYH-associated polyposis Hereditary cancer-predisposing syndrome not specified not provided |
Variation | info |
Gene | MUTYH |
CLNDBN | MYH-associated polyposis Hereditary cancer-predisposing syndrome not specified not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.45799121G>A; NC_000001.10:g.45799121G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000119223.7, RCV000126890.6, RCV000177119.1, RCV000005617.5, RCV000163049.4, RCV000486820.1, |