rs1057517552
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ATGGTCCT;ATGGTCCT) | 0 | common in clinvar |
Make rs1057517552(-;-) |
Make rs1057517552(-;GTCCTATG) |
Make rs1057517552(GTCCTATG;GTCCTATG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 47803462 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517552 |
dbSNP (classic) | rs1057517552 |
ClinGen | rs1057517552 |
ebi | rs1057517552 |
HLI | rs1057517552 |
Exac | rs1057517552 |
Gnomad | rs1057517552 |
Varsome | rs1057517552 |
LitVar | rs1057517552 |
Map | rs1057517552 |
PheGenI | rs1057517552 |
Biobank | rs1057517552 |
1000 genomes | rs1057517552 |
hgdp | rs1057517552 |
ensembl | rs1057517552 |
geneview | rs1057517552 |
scholar | rs1057517552 |
rs1057517552 | |
pharmgkb | rs1057517552 |
gwascentral | rs1057517552 |
openSNP | rs1057517552 |
23andMe | rs1057517552 |
SNPshot | rs1057517552 |
SNPdbe | rs1057517552 |
MSV3d | rs1057517552 |
GWAS Ctlg | rs1057517552 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517552(-;-) |
Alt | rs1057517552(-;-) |
Reference | Rs1057517552(ATGGTCCT;ATGGTCCT) |
Significance | Probable-Pathogenic |
Disease | Hereditary nonpolyposis colorectal cancer type 5 |
Variation | info |
Gene | MSH6 |
CLNDBN | Hereditary nonpolyposis colorectal cancer type 5 |
Reversed | 0 |
HGVS | NC_000002.11:g.48030601_48030608delGTCCTATG |
CLNSRC | |
CLNACC | RCV000411508.1, |