rs63751447
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TAATTTC) | 6 | Lynch syndrome, pathogenic mutation |
(CTAATTT;CTAATTT) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
(TAATTTC;TAATTTC) | 0 | common in clinvar |
Make rs63751447(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47480739 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63751447 |
dbSNP (classic) | rs63751447 |
ClinGen | rs63751447 |
ebi | rs63751447 |
HLI | rs63751447 |
Exac | rs63751447 |
Gnomad | rs63751447 |
Varsome | rs63751447 |
LitVar | rs63751447 |
Map | rs63751447 |
PheGenI | rs63751447 |
Biobank | rs63751447 |
1000 genomes | rs63751447 |
hgdp | rs63751447 |
ensembl | rs63751447 |
geneview | rs63751447 |
scholar | rs63751447 |
rs63751447 | |
pharmgkb | rs63751447 |
gwascentral | rs63751447 |
openSNP | rs63751447 |
23andMe | rs63751447 |
SNPshot | rs63751447 |
SNPdbe | rs63751447 |
MSV3d | rs63751447 |
GWAS Ctlg | rs63751447 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751447(-;-) Rs63751447(CTAATTT;CTAATTT) |
Alt | rs63751447(-;-) Rs63751447(CTAATTT;CTAATTT) |
Reference | Rs63751447(TAATTTC;TAATTTC) |
Significance | Other |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.47707878_47707884delTAATTTC |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076489.2, RCV000163822.3, RCV000202117.1, |