rs63751017
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63751017(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47800714 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63751017 |
dbSNP (classic) | rs63751017 |
ClinGen | rs63751017 |
ebi | rs63751017 |
HLI | rs63751017 |
Exac | rs63751017 |
Gnomad | rs63751017 |
Varsome | rs63751017 |
LitVar | rs63751017 |
Map | rs63751017 |
PheGenI | rs63751017 |
Biobank | rs63751017 |
1000 genomes | rs63751017 |
hgdp | rs63751017 |
ensembl | rs63751017 |
geneview | rs63751017 |
scholar | rs63751017 |
rs63751017 | |
pharmgkb | rs63751017 |
gwascentral | rs63751017 |
openSNP | rs63751017 |
23andMe | rs63751017 |
SNPshot | rs63751017 |
SNPdbe | rs63751017 |
MSV3d | rs63751017 |
GWAS Ctlg | rs63751017 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751017(T;T) |
Alt | rs63751017(T;T) |
Reference | Rs63751017(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Endometrial carcinoma not provided Hereditary nonpolyposis colorectal cancer type 5 |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Endometrial carcinoma not provided Hereditary nonpolyposis colorectal cancer type 5 |
Reversed | 0 |
HGVS | NC_000002.11:g.48027853C>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074777.2, RCV000129807.6, RCV000148645.1, RCV000202017.2, RCV000411710.1, |