rs63750075
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GT) | 6 | Lynch syndrome, pathogenic mutation |
(GT;GT) | 0 | common in clinvar |
(TG;TG) | 0 | common in clinvar |
Make rs63750075(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47800045 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63750075 |
dbSNP (classic) | rs63750075 |
ClinGen | rs63750075 |
ebi | rs63750075 |
HLI | rs63750075 |
Exac | rs63750075 |
Gnomad | rs63750075 |
Varsome | rs63750075 |
LitVar | rs63750075 |
Map | rs63750075 |
PheGenI | rs63750075 |
Biobank | rs63750075 |
1000 genomes | rs63750075 |
hgdp | rs63750075 |
ensembl | rs63750075 |
geneview | rs63750075 |
scholar | rs63750075 |
rs63750075 | |
pharmgkb | rs63750075 |
gwascentral | rs63750075 |
openSNP | rs63750075 |
23andMe | rs63750075 |
SNPshot | rs63750075 |
SNPdbe | rs63750075 |
MSV3d | rs63750075 |
GWAS Ctlg | rs63750075 |
Max Magnitude | 6 |
c.2062_2063delGT (p.Val688Leufs)
23andMe name: i5037857
ClinVar | |
---|---|
Risk | rs63750075(-;-) |
Alt | rs63750075(-;-) |
Reference | Rs63750075(TG;TG) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48027184_48027185delGT |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074711.2, RCV000165752.2, |