rs193922370
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs193922370(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37008813 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs193922370 |
dbSNP (classic) | rs193922370 |
ClinGen | rs193922370 |
ebi | rs193922370 |
HLI | rs193922370 |
Exac | rs193922370 |
Gnomad | rs193922370 |
Varsome | rs193922370 |
LitVar | rs193922370 |
Map | rs193922370 |
PheGenI | rs193922370 |
Biobank | rs193922370 |
1000 genomes | rs193922370 |
hgdp | rs193922370 |
ensembl | rs193922370 |
geneview | rs193922370 |
scholar | rs193922370 |
rs193922370 | |
pharmgkb | rs193922370 |
gwascentral | rs193922370 |
openSNP | rs193922370 |
23andMe | rs193922370 |
SNPshot | rs193922370 |
SNPdbe | rs193922370 |
MSV3d | rs193922370 |
GWAS Ctlg | rs193922370 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs193922370(A;A) rs193922370(C;C) rs193922370(T;T) |
Alt | rs193922370(A;A) rs193922370(C;C) rs193922370(T;T) |
Reference | Rs193922370(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome Lynch syndrome II |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Lynch syndrome II |
Reversed | 0 |
HGVS | NC_000003.11:g.37050304G>A; NC_000003.11:g.37050304G>C; NC_000003.11:g.37050304G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000030226.3, RCV000410339.1, RCV000472090.1, RCV000075720.2, |
[PMID 7584997] Founding mutations and Alu-mediated recombination in hereditary colon cancer.