rs121912962
From SNPedia
Merged into | rs63751247 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
(GAA;GAA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs121912962(-;-) |
Make rs121912962(-;AAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37047633 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs121912962 |
dbSNP (classic) | rs121912962 |
ClinGen | rs121912962 |
ebi | rs121912962 |
HLI | rs121912962 |
Exac | rs121912962 |
Gnomad | rs121912962 |
Varsome | rs121912962 |
LitVar | rs121912962 |
Map | rs121912962 |
PheGenI | rs121912962 |
Biobank | rs121912962 |
1000 genomes | rs121912962 |
hgdp | rs121912962 |
ensembl | rs121912962 |
geneview | rs121912962 |
scholar | rs121912962 |
rs121912962 | |
pharmgkb | rs121912962 |
gwascentral | rs121912962 |
openSNP | rs121912962 |
23andMe | rs121912962 |
SNPshot | rs121912962 |
SNPdbe | rs121912962 |
MSV3d | rs121912962 |
GWAS Ctlg | rs121912962 |
Status | Merged into rs63751247 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs121912962(GAA;GAA) |
Significance | Pathogenic |
Disease | Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided |
Variation | info |
Gene | MLH1 |
CLNDBN | Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.37089130_37089132delAAG |
CLNSRC | Children's Hospital of Eastern Ontario International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant |
CLNACC | RCV000018609.27, RCV000075383.4, RCV000129328.4, RCV000192399.2, RCV000202279.2, |