rs63749980
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63749980(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47798725 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63749980 |
dbSNP (classic) | rs63749980 |
ClinGen | rs63749980 |
ebi | rs63749980 |
HLI | rs63749980 |
Exac | rs63749980 |
Gnomad | rs63749980 |
Varsome | rs63749980 |
LitVar | rs63749980 |
Map | rs63749980 |
PheGenI | rs63749980 |
Biobank | rs63749980 |
1000 genomes | rs63749980 |
hgdp | rs63749980 |
ensembl | rs63749980 |
geneview | rs63749980 |
scholar | rs63749980 |
rs63749980 | |
pharmgkb | rs63749980 |
gwascentral | rs63749980 |
openSNP | rs63749980 |
23andMe | rs63749980 |
SNPshot | rs63749980 |
SNPdbe | rs63749980 |
MSV3d | rs63749980 |
GWAS Ctlg | rs63749980 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63749980(A;A) rs63749980(G;G) rs63749980(T;T) |
Alt | rs63749980(A;A) rs63749980(G;G) rs63749980(T;T) |
Reference | Rs63749980(C;C) |
Significance | Pathogenic |
Disease | not specified Hereditary cancer-predisposing syndrome Lynch syndrome not provided |
Variation | info |
Gene | MSH6 |
CLNDBN | not specified Hereditary cancer-predisposing syndrome Lynch syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48025864C>G; NC_000002.11:g.48025864C>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000178052.1, RCV000215538.1, RCV000226497.2, RCV000075032.3, RCV000486750.1, RCV000490932.1, |