rs63751642
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AGA) | 6 | Lynch syndrome, pathogenic mutation |
(AAG;AAG) | 0 | common in clinvar |
(AGA;AGA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs63751642(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37000960 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63751642 |
dbSNP (classic) | rs63751642 |
ClinGen | rs63751642 |
ebi | rs63751642 |
HLI | rs63751642 |
Exac | rs63751642 |
Gnomad | rs63751642 |
Varsome | rs63751642 |
LitVar | rs63751642 |
Map | rs63751642 |
PheGenI | rs63751642 |
Biobank | rs63751642 |
1000 genomes | rs63751642 |
hgdp | rs63751642 |
ensembl | rs63751642 |
geneview | rs63751642 |
scholar | rs63751642 |
rs63751642 | |
pharmgkb | rs63751642 |
gwascentral | rs63751642 |
openSNP | rs63751642 |
23andMe | rs63751642 |
SNPshot | rs63751642 |
SNPdbe | rs63751642 |
MSV3d | rs63751642 |
GWAS Ctlg | rs63751642 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63751642(-;-) rs63751642(GAA;GAA) |
Alt | rs63751642(-;-) rs63751642(GAA;GAA) |
Reference | Rs63751642(AGA;AGA) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.37042451_37042453delAGA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075552.2, RCV000202299.1, |