rs63750833
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AG) | 6 | Lynch syndrome, pathogenic mutation |
(AG;AG) | 0 | common in clinvar |
Make rs63750833(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47801138 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750833 |
dbSNP (classic) | rs63750833 |
ClinGen | rs63750833 |
ebi | rs63750833 |
HLI | rs63750833 |
Exac | rs63750833 |
Gnomad | rs63750833 |
Varsome | rs63750833 |
LitVar | rs63750833 |
Map | rs63750833 |
PheGenI | rs63750833 |
Biobank | rs63750833 |
1000 genomes | rs63750833 |
hgdp | rs63750833 |
ensembl | rs63750833 |
geneview | rs63750833 |
scholar | rs63750833 |
rs63750833 | |
pharmgkb | rs63750833 |
gwascentral | rs63750833 |
openSNP | rs63750833 |
23andMe | rs63750833 |
SNPshot | rs63750833 |
SNPdbe | rs63750833 |
MSV3d | rs63750833 |
GWAS Ctlg | rs63750833 |
Max Magnitude | 6 |
c.3155_3156delAG (p.Glu1052Valfs)
23andMe name: i5037890
ClinVar | |
---|---|
Risk | rs63750833(-;-) |
Alt | rs63750833(-;-) |
Reference | Rs63750833(AG;AG) |
Significance | 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.48028277_48028278delAG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074805.2, RCV000115402.6, RCV000202199.2, |