rs387906230
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6.5 | Familial Adenomatous Polyposis |
(T;T) | 0 | common in clinvar |
Make rs387906230(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 112827199 |
Gene | APC |
is a | snp |
is | mentioned by |
dbSNP | rs387906230 |
dbSNP (classic) | rs387906230 |
ClinGen | rs387906230 |
ebi | rs387906230 |
HLI | rs387906230 |
Exac | rs387906230 |
Gnomad | rs387906230 |
Varsome | rs387906230 |
LitVar | rs387906230 |
Map | rs387906230 |
PheGenI | rs387906230 |
Biobank | rs387906230 |
1000 genomes | rs387906230 |
hgdp | rs387906230 |
ensembl | rs387906230 |
geneview | rs387906230 |
scholar | rs387906230 |
rs387906230 | |
pharmgkb | rs387906230 |
gwascentral | rs387906230 |
openSNP | rs387906230 |
23andMe | rs387906230 |
SNPshot | rs387906230 |
SNPdbe | rs387906230 |
MSV3d | rs387906230 |
GWAS Ctlg | rs387906230 |
Max Magnitude | 6.5 |
ClinVar | |
---|---|
Risk | rs387906230(A;A) rs387906230(C;C) rs387906230(G;G) |
Alt | rs387906230(A;A) rs387906230(C;C) rs387906230(G;G) |
Reference | Rs387906230(T;T) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 |
Variation | info |
Gene | APC |
CLNDBN | not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 |
Reversed | 0 |
HGVS | NC_000005.9:g.112162896T>A; NC_000005.9:g.112162896T>C; NC_000005.9:g.112162896T>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000202292.1, RCV000165019.1, RCV000000832.2, |