rs63750246
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CA) | 6 | Lynch syndrome, pathogenic mutation |
(CA;CA) | 0 | common in clinvar |
Make rs63750246(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 5995574 |
Gene | PMS2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750246 |
dbSNP (classic) | rs63750246 |
ClinGen | rs63750246 |
ebi | rs63750246 |
HLI | rs63750246 |
Exac | rs63750246 |
Gnomad | rs63750246 |
Varsome | rs63750246 |
LitVar | rs63750246 |
Map | rs63750246 |
PheGenI | rs63750246 |
Biobank | rs63750246 |
1000 genomes | rs63750246 |
hgdp | rs63750246 |
ensembl | rs63750246 |
geneview | rs63750246 |
scholar | rs63750246 |
rs63750246 | |
pharmgkb | rs63750246 |
gwascentral | rs63750246 |
openSNP | rs63750246 |
23andMe | rs63750246 |
SNPshot | rs63750246 |
SNPdbe | rs63750246 |
MSV3d | rs63750246 |
GWAS Ctlg | rs63750246 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750246(-;-) |
Alt | rs63750246(-;-) |
Reference | Rs63750246(CA;CA) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4 |
Variation | info |
Gene | PMS2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 4 |
Reversed | 1 |
HGVS | NC_000007.13:g.6035205_6035206delTG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076895.3, RCV000165221.1, RCV000411556.1, |