rs864622257
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 5 | Lynch syndrome (predicted) |
(G;G) | 0 | common in clinvar |
Make rs864622257(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 47800119 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs864622257 |
dbSNP (classic) | rs864622257 |
ClinGen | rs864622257 |
ebi | rs864622257 |
HLI | rs864622257 |
Exac | rs864622257 |
Gnomad | rs864622257 |
Varsome | rs864622257 |
LitVar | rs864622257 |
Map | rs864622257 |
PheGenI | rs864622257 |
Biobank | rs864622257 |
1000 genomes | rs864622257 |
hgdp | rs864622257 |
ensembl | rs864622257 |
geneview | rs864622257 |
scholar | rs864622257 |
rs864622257 | |
pharmgkb | rs864622257 |
gwascentral | rs864622257 |
openSNP | rs864622257 |
23andMe | rs864622257 |
SNPshot | rs864622257 |
SNPdbe | rs864622257 |
MSV3d | rs864622257 |
GWAS Ctlg | rs864622257 |
Max Magnitude | 5 |
c.2136delG (p.Asp713Ilefs)
23andMe name: i723181
ClinVar | |
---|---|
Risk | rs864622257(-;-) |
Alt | rs864622257(-;-) |
Reference | Rs864622257(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48027258delG |
CLNSRC | |
CLNACC | RCV000203704.1, |