rs587776705
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GTG) | 5 | Variant of uncertain significance; possible Lynch syndrome mutation |
(GTG;GTG) | 0 | common in clinvar |
Make rs587776705(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47803633 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs587776705 |
dbSNP (classic) | rs587776705 |
ClinGen | rs587776705 |
ebi | rs587776705 |
HLI | rs587776705 |
Exac | rs587776705 |
Gnomad | rs587776705 |
Varsome | rs587776705 |
LitVar | rs587776705 |
Map | rs587776705 |
PheGenI | rs587776705 |
Biobank | rs587776705 |
1000 genomes | rs587776705 |
hgdp | rs587776705 |
ensembl | rs587776705 |
geneview | rs587776705 |
scholar | rs587776705 |
rs587776705 | |
pharmgkb | rs587776705 |
gwascentral | rs587776705 |
openSNP | rs587776705 |
23andMe | rs587776705 |
SNPshot | rs587776705 |
SNPdbe | rs587776705 |
MSV3d | rs587776705 |
GWAS Ctlg | rs587776705 |
Max Magnitude | 5 |
c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)
23andMe name: i5901124
ClinVar | |
---|---|
Risk | rs587776705(-;-) |
Alt | rs587776705(-;-) |
Reference | Rs587776705(GTG;GTG) |
Significance | Pathogenic |
Disease | Turcot syndrome Lynch syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Turcot syndrome Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48030772_48030774delGTG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009496.5, RCV000074846.2, |