rs730881816
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | Lynch syndrome |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | Lynch syndrome |
Make rs730881816(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47799788 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs730881816 |
dbSNP (classic) | rs730881816 |
ClinGen | rs730881816 |
ebi | rs730881816 |
HLI | rs730881816 |
Exac | rs730881816 |
Gnomad | rs730881816 |
Varsome | rs730881816 |
LitVar | rs730881816 |
Map | rs730881816 |
PheGenI | rs730881816 |
Biobank | rs730881816 |
1000 genomes | rs730881816 |
hgdp | rs730881816 |
ensembl | rs730881816 |
geneview | rs730881816 |
scholar | rs730881816 |
rs730881816 | |
pharmgkb | rs730881816 |
gwascentral | rs730881816 |
openSNP | rs730881816 |
23andMe | rs730881816 |
SNPshot | rs730881816 |
SNPdbe | rs730881816 |
MSV3d | rs730881816 |
GWAS Ctlg | rs730881816 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs730881816(A;A) rs730881816(G;G) |
Alt | rs730881816(A;A) rs730881816(G;G) |
Reference | Rs730881816(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5 Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48026927C>A; NC_000002.11:g.48026927C>G |
CLNSRC | |
CLNACC | RCV000464671.1, RCV000160715.1, RCV000231648.1, RCV000409404.1, RCV000491316.1, |