rs63751058
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Make rs63751058(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47806325 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63751058 |
dbSNP (classic) | rs63751058 |
ClinGen | rs63751058 |
ebi | rs63751058 |
HLI | rs63751058 |
Exac | rs63751058 |
Gnomad | rs63751058 |
Varsome | rs63751058 |
LitVar | rs63751058 |
Map | rs63751058 |
PheGenI | rs63751058 |
Biobank | rs63751058 |
1000 genomes | rs63751058 |
hgdp | rs63751058 |
ensembl | rs63751058 |
geneview | rs63751058 |
scholar | rs63751058 |
rs63751058 | |
pharmgkb | rs63751058 |
gwascentral | rs63751058 |
openSNP | rs63751058 |
23andMe | rs63751058 |
SNPshot | rs63751058 |
SNPdbe | rs63751058 |
MSV3d | rs63751058 |
GWAS Ctlg | rs63751058 |
Max Magnitude | 6 |
aka c.3768T>G, p.Tyr1256Ter, Y1256* and Y1256X
ClinVar | |
---|---|
Risk | rs63751058(G;G) |
Alt | rs63751058(G;G) |
Reference | Rs63751058(T;T) |
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.48033464T>G |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074926.2, RCV000202271.1, RCV000491038.1, |