rs63750955
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | Lynch syndrome, pathogenic mutation |
(I;I) | 0 |
Make rs63750955(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47798634 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750955 |
dbSNP (classic) | rs63750955 |
ClinGen | rs63750955 |
ebi | rs63750955 |
HLI | rs63750955 |
Exac | rs63750955 |
Gnomad | rs63750955 |
Varsome | rs63750955 |
LitVar | rs63750955 |
Map | rs63750955 |
PheGenI | rs63750955 |
Biobank | rs63750955 |
1000 genomes | rs63750955 |
hgdp | rs63750955 |
ensembl | rs63750955 |
geneview | rs63750955 |
scholar | rs63750955 |
rs63750955 | |
pharmgkb | rs63750955 |
gwascentral | rs63750955 |
openSNP | rs63750955 |
23andMe | rs63750955 |
SNPshot | rs63750955 |
SNPdbe | rs63750955 |
MSV3d | rs63750955 |
GWAS Ctlg | rs63750955 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750955(T;T) |
Alt | rs63750955(T;T) |
Reference | Rs63750955(-;-) |
Significance | Pathogenic |
Disease | Hereditary nonpolyposis colorectal cancer type 5 Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MSH6 |
CLNDBN | Hereditary nonpolyposis colorectal cancer type 5 Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48025773dupT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009487.7, RCV000075018.2, RCV000202569.4, RCV000235180.1, |