rs63751327
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | Lynch syndrome, pathogenic mutation |
(-;AA) | 6 | Lynch syndrome |
(I;I) | 0 |
Make rs63751327(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47804985 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63751327 |
dbSNP (classic) | rs63751327 |
ClinGen | rs63751327 |
ebi | rs63751327 |
HLI | rs63751327 |
Exac | rs63751327 |
Gnomad | rs63751327 |
Varsome | rs63751327 |
LitVar | rs63751327 |
Map | rs63751327 |
PheGenI | rs63751327 |
Biobank | rs63751327 |
1000 genomes | rs63751327 |
hgdp | rs63751327 |
ensembl | rs63751327 |
geneview | rs63751327 |
scholar | rs63751327 |
rs63751327 | |
pharmgkb | rs63751327 |
gwascentral | rs63751327 |
openSNP | rs63751327 |
23andMe | rs63751327 |
SNPshot | rs63751327 |
SNPdbe | rs63751327 |
MSV3d | rs63751327 |
GWAS Ctlg | rs63751327 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751327(A;A) rs63751327(AA;AA) |
Alt | rs63751327(A;A) rs63751327(AA;AA) |
Reference | Rs63751327(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5 |
Variation | info |
Gene | MSH6 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5 |
Reversed | 0 |
HGVS | NC_000002.11:g.48032124_48032125insAA; NC_000002.11:g.48032124dupA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000491489.1, RCV000074872.2, RCV000166347.3, RCV000202194.1, RCV000409599.1, |