rs63749942
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;CGT) | 6 | Lynch syndrome, pathogenic mutation |
(CGT;CGT) | 0 | common in clinvar |
(GTC;GTC) | 0 | common in clinvar |
(I;I) | 0 |
Make rs63749942(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47806281 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63749942 |
dbSNP (classic) | rs63749942 |
ClinGen | rs63749942 |
ebi | rs63749942 |
HLI | rs63749942 |
Exac | rs63749942 |
Gnomad | rs63749942 |
Varsome | rs63749942 |
LitVar | rs63749942 |
Map | rs63749942 |
PheGenI | rs63749942 |
Biobank | rs63749942 |
1000 genomes | rs63749942 |
hgdp | rs63749942 |
ensembl | rs63749942 |
geneview | rs63749942 |
scholar | rs63749942 |
rs63749942 | |
pharmgkb | rs63749942 |
gwascentral | rs63749942 |
openSNP | rs63749942 |
23andMe | rs63749942 |
SNPshot | rs63749942 |
SNPdbe | rs63749942 |
MSV3d | rs63749942 |
GWAS Ctlg | rs63749942 |
Merged from | Rs587781362 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63749942(-;-) Rs63749942(GTC;GTC) |
Alt | rs63749942(-;-) Rs63749942(GTC;GTC) |
Reference | Rs63749942(CGT;CGT) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48033420_48033422delCGT |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074918.2, RCV000129144.4, RCV000255857.1, |