rs63750937
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs63750937(-;-) |
Make rs63750937(-;CT) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47478424 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs63750937 |
dbSNP (classic) | rs63750937 |
ClinGen | rs63750937 |
ebi | rs63750937 |
HLI | rs63750937 |
Exac | rs63750937 |
Gnomad | rs63750937 |
Varsome | rs63750937 |
LitVar | rs63750937 |
Map | rs63750937 |
PheGenI | rs63750937 |
Biobank | rs63750937 |
1000 genomes | rs63750937 |
hgdp | rs63750937 |
ensembl | rs63750937 |
geneview | rs63750937 |
scholar | rs63750937 |
rs63750937 | |
pharmgkb | rs63750937 |
gwascentral | rs63750937 |
openSNP | rs63750937 |
23andMe | rs63750937 |
SNPshot | rs63750937 |
SNPdbe | rs63750937 |
MSV3d | rs63750937 |
GWAS Ctlg | rs63750937 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs63750937(-;-) |
Alt | rs63750937(-;-) |
Reference | Rs63750937(CT;CT) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome I |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome I |
Reversed | 0 |
HGVS | NC_000002.11:g.47705563_47705564delCT |
CLNSRC | ClinVar |
CLNACC | RCV000144612.1, |