rs141577476
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
Make rs141577476(G;T) |
Make rs141577476(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 6005967 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs141577476 |
dbSNP (classic) | rs141577476 |
ClinGen | rs141577476 |
ebi | rs141577476 |
HLI | rs141577476 |
Exac | rs141577476 |
Gnomad | rs141577476 |
Varsome | rs141577476 |
LitVar | rs141577476 |
Map | rs141577476 |
PheGenI | rs141577476 |
Biobank | rs141577476 |
1000 genomes | rs141577476 |
hgdp | rs141577476 |
ensembl | rs141577476 |
geneview | rs141577476 |
scholar | rs141577476 |
rs141577476 | |
pharmgkb | rs141577476 |
gwascentral | rs141577476 |
openSNP | rs141577476 |
23andMe | rs141577476 |
SNPshot | rs141577476 |
SNPdbe | rs141577476 |
MSV3d | rs141577476 |
GWAS Ctlg | rs141577476 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs141577476(A;A) rs141577476(T;T) |
Alt | rs141577476(A;A) rs141577476(T;T) |
Reference | Rs141577476(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome |
Variation | info |
Gene | PMS2 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome |
Reversed | 0 |
HGVS | NC_000007.13:g.6045598G>A; NC_000007.13:g.6045598G>T |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000131992.2, RCV000475400.1, RCV000227509.2, |