rs1800937
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | Lynch syndrome, pathogenic mutation |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | Lynch syndrome, pathogenic mutation |
(C;T) | 0 | benign polymorphism |
(T;T) | 0 | benign polymorphism |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47798625 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs1800937 |
dbSNP (classic) | rs1800937 |
ClinGen | rs1800937 |
ebi | rs1800937 |
HLI | rs1800937 |
Exac | rs1800937 |
Gnomad | rs1800937 |
Varsome | rs1800937 |
LitVar | rs1800937 |
Map | rs1800937 |
PheGenI | rs1800937 |
Biobank | rs1800937 |
1000 genomes | rs1800937 |
hgdp | rs1800937 |
ensembl | rs1800937 |
geneview | rs1800937 |
scholar | rs1800937 |
rs1800937 | |
pharmgkb | rs1800937 |
gwascentral | rs1800937 |
openSNP | rs1800937 |
23andMe | rs1800937 |
SNPshot | rs1800937 |
SNPdbe | rs1800937 |
MSV3d | rs1800937 |
GWAS Ctlg | rs1800937 |
GMAF | 0.04959 |
Max Magnitude | 6 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs1800937(A;A) rs1800937(G;G) Rs1800937(T;T) |
Alt | rs1800937(A;A) rs1800937(G;G) Rs1800937(T;T) |
Reference | Rs1800937(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48025764C>A; NC_000002.11:g.48025764C>G; NC_000002.11:g.48025764C>T |
CLNSRC | HGMD |
CLNACC | RCV000075015.2, RCV000075016.2, RCV000485263.1, RCV000030277.4, RCV000035327.8, RCV000132355.3, |