rs63750206
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(C;G) | 6 | Lynch syndrome |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63750206(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 36996701 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750206 |
dbSNP (classic) | rs63750206 |
ClinGen | rs63750206 |
ebi | rs63750206 |
HLI | rs63750206 |
Exac | rs63750206 |
Gnomad | rs63750206 |
Varsome | rs63750206 |
LitVar | rs63750206 |
Map | rs63750206 |
PheGenI | rs63750206 |
Biobank | rs63750206 |
1000 genomes | rs63750206 |
hgdp | rs63750206 |
ensembl | rs63750206 |
geneview | rs63750206 |
scholar | rs63750206 |
rs63750206 | |
pharmgkb | rs63750206 |
gwascentral | rs63750206 |
openSNP | rs63750206 |
23andMe | rs63750206 |
SNPshot | rs63750206 |
SNPdbe | rs63750206 |
MSV3d | rs63750206 |
GWAS Ctlg | rs63750206 |
Merged from | Rs121912959 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750206(A;A) rs63750206(T;T) |
Alt | rs63750206(A;A) rs63750206(T;T) |
Reference | Rs63750206(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome II Turcot syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome II Turcot syndrome |
Reversed | 0 |
HGVS | NC_000003.11:g.37038192G>A; NC_000003.11:g.37038192G>T |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000075474.3, RCV000128871.5, RCV000202032.2, RCV000018618.28, RCV000018619.28, RCV000075475.2, |