rs200492211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs200492211(C;G) |
Make rs200492211(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47801125 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs200492211 |
dbSNP (classic) | rs200492211 |
ClinGen | rs200492211 |
ebi | rs200492211 |
HLI | rs200492211 |
Exac | rs200492211 |
Gnomad | rs200492211 |
Varsome | rs200492211 |
LitVar | rs200492211 |
Map | rs200492211 |
PheGenI | rs200492211 |
Biobank | rs200492211 |
1000 genomes | rs200492211 |
hgdp | rs200492211 |
ensembl | rs200492211 |
geneview | rs200492211 |
scholar | rs200492211 |
rs200492211 | |
pharmgkb | rs200492211 |
gwascentral | rs200492211 |
openSNP | rs200492211 |
23andMe | rs200492211 |
SNPshot | rs200492211 |
SNPdbe | rs200492211 |
MSV3d | rs200492211 |
GWAS Ctlg | rs200492211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200492211(G;G) rs200492211(T;T) |
Alt | rs200492211(G;G) rs200492211(T;T) |
Reference | Rs200492211(C;C) |
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.48028264C>G; NC_000002.11:g.48028264C>T |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000200624.1, RCV000202056.3, RCV000490956.1, |