rs63751410
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;GA) | 6 | Lynch syndrome, pathogenic mutation |
(GA;GA) | 0 | common in clinvar |
Make rs63751410(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47804982 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs63751410 |
dbSNP (classic) | rs63751410 |
ClinGen | rs63751410 |
ebi | rs63751410 |
HLI | rs63751410 |
Exac | rs63751410 |
Gnomad | rs63751410 |
Varsome | rs63751410 |
LitVar | rs63751410 |
Map | rs63751410 |
PheGenI | rs63751410 |
Biobank | rs63751410 |
1000 genomes | rs63751410 |
hgdp | rs63751410 |
ensembl | rs63751410 |
geneview | rs63751410 |
scholar | rs63751410 |
rs63751410 | |
pharmgkb | rs63751410 |
gwascentral | rs63751410 |
openSNP | rs63751410 |
23andMe | rs63751410 |
SNPshot | rs63751410 |
SNPdbe | rs63751410 |
MSV3d | rs63751410 |
GWAS Ctlg | rs63751410 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751410(-;-) |
Alt | rs63751410(-;-) |
Reference | Rs63751410(GA;GA) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48032121_48032122delGA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074869.2, |