rs193922344
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs193922344(A;G) |
Make rs193922344(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47795989 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs193922344 |
dbSNP (classic) | rs193922344 |
ClinGen | rs193922344 |
ebi | rs193922344 |
HLI | rs193922344 |
Exac | rs193922344 |
Gnomad | rs193922344 |
Varsome | rs193922344 |
LitVar | rs193922344 |
Map | rs193922344 |
PheGenI | rs193922344 |
Biobank | rs193922344 |
1000 genomes | rs193922344 |
hgdp | rs193922344 |
ensembl | rs193922344 |
geneview | rs193922344 |
scholar | rs193922344 |
rs193922344 | |
pharmgkb | rs193922344 |
gwascentral | rs193922344 |
openSNP | rs193922344 |
23andMe | rs193922344 |
SNPshot | rs193922344 |
SNPdbe | rs193922344 |
MSV3d | rs193922344 |
GWAS Ctlg | rs193922344 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922344(G;G) |
Alt | rs193922344(G;G) |
Reference | Rs193922344(A;A) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48023128A>G |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000030276.3, |