rs63751127
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63751127(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47800177 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63751127 |
dbSNP (classic) | rs63751127 |
ClinGen | rs63751127 |
ebi | rs63751127 |
HLI | rs63751127 |
Exac | rs63751127 |
Gnomad | rs63751127 |
Varsome | rs63751127 |
LitVar | rs63751127 |
Map | rs63751127 |
PheGenI | rs63751127 |
Biobank | rs63751127 |
1000 genomes | rs63751127 |
hgdp | rs63751127 |
ensembl | rs63751127 |
geneview | rs63751127 |
scholar | rs63751127 |
rs63751127 | |
pharmgkb | rs63751127 |
gwascentral | rs63751127 |
openSNP | rs63751127 |
23andMe | rs63751127 |
SNPshot | rs63751127 |
SNPdbe | rs63751127 |
MSV3d | rs63751127 |
GWAS Ctlg | rs63751127 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751127(A;A) rs63751127(T;T) |
Alt | rs63751127(A;A) rs63751127(T;T) |
Reference | Rs63751127(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary nonpolyposis colorectal cancer type 5 Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome Hereditary nonpolyposis colorectal cancer type 5 Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48027316C>A; NC_000002.11:g.48027316C>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000197601.1, RCV000412439.1, RCV000074726.3, RCV000132226.6, RCV000212661.2, |