rs63751466
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome |
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 |
Make rs63751466(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 5977629 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs63751466 |
dbSNP (classic) | rs63751466 |
ClinGen | rs63751466 |
ebi | rs63751466 |
HLI | rs63751466 |
Exac | rs63751466 |
Gnomad | rs63751466 |
Varsome | rs63751466 |
LitVar | rs63751466 |
Map | rs63751466 |
PheGenI | rs63751466 |
Biobank | rs63751466 |
1000 genomes | rs63751466 |
hgdp | rs63751466 |
ensembl | rs63751466 |
geneview | rs63751466 |
scholar | rs63751466 |
rs63751466 | |
pharmgkb | rs63751466 |
gwascentral | rs63751466 |
openSNP | rs63751466 |
23andMe | rs63751466 |
SNPshot | rs63751466 |
SNPdbe | rs63751466 |
MSV3d | rs63751466 |
GWAS Ctlg | rs63751466 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751466(A;A) rs63751466(T;T) |
Alt | rs63751466(A;A) rs63751466(T;T) |
Reference | Rs63751466(C;C) |
Significance | Pathogenic |
Disease | Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4 not provided |
Variation | info |
Gene | PMS2 |
CLNDBN | Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4 not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.6017260G>A; NC_000007.13:g.6017260G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009818.2, RCV000076858.2, RCV000129304.2, RCV000409056.1, RCV000413126.1, RCV000223473.1, |