rs748452299
From SNPedia
Merged into | rs267608087 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs748452299(-;-) |
Make rs748452299(-;C) |
Make rs748452299(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47803500 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs748452299 |
dbSNP (classic) | rs748452299 |
ClinGen | rs748452299 |
ebi | rs748452299 |
HLI | rs748452299 |
Exac | rs748452299 |
Gnomad | rs748452299 |
Varsome | rs748452299 |
LitVar | rs748452299 |
Map | rs748452299 |
PheGenI | rs748452299 |
Biobank | rs748452299 |
1000 genomes | rs748452299 |
hgdp | rs748452299 |
ensembl | rs748452299 |
geneview | rs748452299 |
scholar | rs748452299 |
rs748452299 | |
pharmgkb | rs748452299 |
gwascentral | rs748452299 |
openSNP | rs748452299 |
23andMe | rs748452299 |
SNPshot | rs748452299 |
SNPdbe | rs748452299 |
MSV3d | rs748452299 |
GWAS Ctlg | rs748452299 |
Status | Merged into rs267608087 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748452299(AC;AC) rs748452299(ACC;ACC) |
Alt | rs748452299(AC;AC) rs748452299(ACC;ACC) |
Reference | Rs748452299(A;A) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48030647dupC |
CLNSRC | HGMD International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074831.3, RCV000078312.5, RCV000115412.5, |