rs63750993
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs63750993(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37020336 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs63750993 |
dbSNP (classic) | rs63750993 |
ClinGen | rs63750993 |
ebi | rs63750993 |
HLI | rs63750993 |
Exac | rs63750993 |
Gnomad | rs63750993 |
Varsome | rs63750993 |
LitVar | rs63750993 |
Map | rs63750993 |
PheGenI | rs63750993 |
Biobank | rs63750993 |
1000 genomes | rs63750993 |
hgdp | rs63750993 |
ensembl | rs63750993 |
geneview | rs63750993 |
scholar | rs63750993 |
rs63750993 | |
pharmgkb | rs63750993 |
gwascentral | rs63750993 |
openSNP | rs63750993 |
23andMe | rs63750993 |
SNPshot | rs63750993 |
SNPdbe | rs63750993 |
MSV3d | rs63750993 |
GWAS Ctlg | rs63750993 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs63750993(G;G) rs63750993(T;T) |
Alt | rs63750993(G;G) rs63750993(T;T) |
Reference | Rs63750993(A;A) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome not specified |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome not specified |
Reversed | 0 |
HGVS | NC_000003.11:g.37061827A>G; NC_000003.11:g.37061827A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000075931.2, RCV000482267.1, RCV000075932.2, |