rs267608101
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;GTTT) | 6 | Lynch syndrome, pathogenic mutation |
Make rs267608101(GTTT;GTTT) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47804993 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs267608101 |
dbSNP (classic) | rs267608101 |
ClinGen | rs267608101 |
ebi | rs267608101 |
HLI | rs267608101 |
Exac | rs267608101 |
Gnomad | rs267608101 |
Varsome | rs267608101 |
LitVar | rs267608101 |
Map | rs267608101 |
PheGenI | rs267608101 |
Biobank | rs267608101 |
1000 genomes | rs267608101 |
hgdp | rs267608101 |
ensembl | rs267608101 |
geneview | rs267608101 |
scholar | rs267608101 |
rs267608101 | |
pharmgkb | rs267608101 |
gwascentral | rs267608101 |
openSNP | rs267608101 |
23andMe | rs267608101 |
SNPshot | rs267608101 |
SNPdbe | rs267608101 |
MSV3d | rs267608101 |
GWAS Ctlg | rs267608101 |
Max Magnitude | 6 |
c.3519_3522dupGTTT (p.Thr1175Valfs)
23andMe name: i5037835
ClinVar | |
---|---|
Risk | rs267608101(TGTT;TGTT) |
Alt | rs267608101(TGTT;TGTT) |
Reference | Rs267608101(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48032129_48032132dupGTTT |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074876.2, RCV000201987.1, |