rs1057517617
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGTATG;GGTATG) | 0 | common in clinvar |
Make rs1057517617(-;-) |
Make rs1057517617(-;GTATGG) |
Make rs1057517617(GTATGG;GTATGG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 37026008 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517617 |
dbSNP (classic) | rs1057517617 |
ClinGen | rs1057517617 |
ebi | rs1057517617 |
HLI | rs1057517617 |
Exac | rs1057517617 |
Gnomad | rs1057517617 |
Varsome | rs1057517617 |
LitVar | rs1057517617 |
Map | rs1057517617 |
PheGenI | rs1057517617 |
Biobank | rs1057517617 |
1000 genomes | rs1057517617 |
hgdp | rs1057517617 |
ensembl | rs1057517617 |
geneview | rs1057517617 |
scholar | rs1057517617 |
rs1057517617 | |
pharmgkb | rs1057517617 |
gwascentral | rs1057517617 |
openSNP | rs1057517617 |
23andMe | rs1057517617 |
SNPshot | rs1057517617 |
SNPdbe | rs1057517617 |
MSV3d | rs1057517617 |
GWAS Ctlg | rs1057517617 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517617(-;-) |
Alt | rs1057517617(-;-) |
Reference | Rs1057517617(GGTATG;GGTATG) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome II |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome II |
Reversed | 0 |
HGVS | NC_000003.11:g.37067499_37067504delGTATGG |
CLNSRC | |
CLNACC | RCV000409147.1, |