rs63750796
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63750796(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37020380 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750796 |
dbSNP (classic) | rs63750796 |
ClinGen | rs63750796 |
ebi | rs63750796 |
HLI | rs63750796 |
Exac | rs63750796 |
Gnomad | rs63750796 |
Varsome | rs63750796 |
LitVar | rs63750796 |
Map | rs63750796 |
PheGenI | rs63750796 |
Biobank | rs63750796 |
1000 genomes | rs63750796 |
hgdp | rs63750796 |
ensembl | rs63750796 |
geneview | rs63750796 |
scholar | rs63750796 |
rs63750796 | |
pharmgkb | rs63750796 |
gwascentral | rs63750796 |
openSNP | rs63750796 |
23andMe | rs63750796 |
SNPshot | rs63750796 |
SNPdbe | rs63750796 |
MSV3d | rs63750796 |
GWAS Ctlg | rs63750796 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750796(A;A) rs63750796(T;T) |
Alt | rs63750796(A;A) rs63750796(T;T) |
Reference | Rs63750796(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I not specified Lynch syndrome II |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I not specified Lynch syndrome II |
Reversed | 0 |
HGVS | NC_000003.11:g.37061871G>A; NC_000003.11:g.37061871G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075945.2, RCV000115489.6, RCV000144597.1, RCV000212528.2, RCV000410221.1, RCV000075946.3, |