rs63750006
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63750006(A;A) |
Make rs63750006(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47429920 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750006 |
dbSNP (classic) | rs63750006 |
ClinGen | rs63750006 |
ebi | rs63750006 |
HLI | rs63750006 |
Exac | rs63750006 |
Gnomad | rs63750006 |
Varsome | rs63750006 |
LitVar | rs63750006 |
Map | rs63750006 |
PheGenI | rs63750006 |
Biobank | rs63750006 |
1000 genomes | rs63750006 |
hgdp | rs63750006 |
ensembl | rs63750006 |
geneview | rs63750006 |
scholar | rs63750006 |
rs63750006 | |
pharmgkb | rs63750006 |
gwascentral | rs63750006 |
openSNP | rs63750006 |
23andMe | rs63750006 |
SNPshot | rs63750006 |
SNPdbe | rs63750006 |
MSV3d | rs63750006 |
GWAS Ctlg | rs63750006 |
GMAF | 0.001837 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750006(A;A) rs63750006(T;T) |
Alt | rs63750006(A;A) rs63750006(T;T) |
Reference | Rs63750006(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome not specified Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome not specified Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.47657059C>A; NC_000002.11:g.47657059C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000076079.2, RCV000121568.2, RCV000160643.5, RCV000076080.2, RCV000202277.1, |