rs1057517543
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GAAAGAAGATCTG;GAAAGAAGATCTG) | 0 | common in clinvar |
Make rs1057517543(-;-) |
Make rs1057517543(-;AAGAAGATCTGGA) |
Make rs1057517543(AAGAAGATCTGGA;AAGAAGATCTGGA) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 37000956 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517543 |
dbSNP (classic) | rs1057517543 |
ClinGen | rs1057517543 |
ebi | rs1057517543 |
HLI | rs1057517543 |
Exac | rs1057517543 |
Gnomad | rs1057517543 |
Varsome | rs1057517543 |
LitVar | rs1057517543 |
Map | rs1057517543 |
PheGenI | rs1057517543 |
Biobank | rs1057517543 |
1000 genomes | rs1057517543 |
hgdp | rs1057517543 |
ensembl | rs1057517543 |
geneview | rs1057517543 |
scholar | rs1057517543 |
rs1057517543 | |
pharmgkb | rs1057517543 |
gwascentral | rs1057517543 |
openSNP | rs1057517543 |
23andMe | rs1057517543 |
SNPshot | rs1057517543 |
SNPdbe | rs1057517543 |
MSV3d | rs1057517543 |
GWAS Ctlg | rs1057517543 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057517543(-;-) |
Alt | rs1057517543(-;-) |
Reference | Rs1057517543(GAAAGAAGATCTG;GAAAGAAGATCTG) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome II |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome II |
Reversed | 0 |
HGVS | NC_000003.11:g.37042447_37042459delAAGAAGATCTGGA |
CLNSRC | |
CLNACC | RCV000410179.1, |